Marwan Shinawi

Marwan Shinawi

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Marwan Shinawi

Publications by authors named "Marwan Shinawi"

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

Eur J Hum Genet 2019 Oct 5;27(10):1611-1618. Epub 2019 Jul 5.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/s41431-019-0462-xDOI Listing
October 2019

Variants in DOCK3 cause developmental delay and hypotonia.

Eur J Hum Genet 2019 Aug 11;27(8):1225-1234. Epub 2019 Apr 11.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/s41431-019-0397-2DOI Listing
August 2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes.

Eur J Med Genet 2019 Aug 15:103736. Epub 2019 Aug 15.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103736DOI Listing
August 2019

Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.

Bone 2019 Jul 23;124:14-21. Epub 2019 Mar 23.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.bone.2019.03.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551519PMC
July 2019

A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema.

Mol Genet Genomic Med 2019 Jul 8;7(7):e00733. Epub 2019 May 8.

John T. Milliken Department of Medicine, Division of Geriatrics and Nutritional Sciences, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/mgg3.733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625134PMC
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Birth Defects Among 788 Children Born to Gulf War Veterans Based on Physical Examination.

J Occup Environ Med 2019 Apr;61(4):263-270

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine (Dr Shinawi); Cooperative Studies Program Coordinating Center, Edward Hines Jr. VA Hospital, Hines, Illinois (Ms Alpern, Ms Dannenfeldt, Dr Reda); Department of Psychological and Brain Sciences, Boston University, Boston, Massachusetts (Dr Toomey); and Washington University School of Medicine (Dr Blanchard), St. Louis, Missouri.

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http://dx.doi.org/10.1097/JOM.0000000000001508DOI Listing
April 2019

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

J Clin Res Pediatr Endocrinol 2019 02 9;11(1):88-93. Epub 2018 May 9.

Washington University Faculty of Medicine, Department of Pediatrics, Washington, USA

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http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398186PMC
February 2019

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Hum Mutat 2018 Dec 24;39(12):1875-1884. Epub 2018 Sep 24.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.23627DOI Listing
December 2018

Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy.

Neurology 2018 11;91(20):938-941

From the Departments of Neurology (A.K.B., P.T.G.) and Ophthalmology and Visual Sciences (R.N.M., S.M.C.) and Division of Genetics and Genomic Medicine, Department of Pediatrics (M.S.), Washington University School of Medicine, St Louis, MO; and Department of Pediatrics (A.K.B.), King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1212/WNL.0000000000006498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260193PMC
November 2018

DeSanto-Shinawi Syndrome: First Case in South America.

Mol Syndromol 2018 May 28;9(3):154-158. Epub 2018 Apr 28.

Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Facultad de Ciencias de la Salud, Universidad ICESI, Colombia.

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http://dx.doi.org/10.1159/000488815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006642PMC
May 2018

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Child Neurol Open 2017 Jan-Dec;4:2329048X17733214. Epub 2017 Oct 8.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.

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http://dx.doi.org/10.1177/2329048X17733214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638153PMC
October 2017

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

Adult-onset dystonia with marfanoid features.

Neurol Clin Pract 2017 Aug;7(4):e31-e34

Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1212/CPJ.0000000000000297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566795PMC
August 2017

Support for the Diagnosis of CHARGE Syndrome-Reply.

JAMA Otolaryngol Head Neck Surg 2017 06;143(6):635

Division of Genetics and Genomic studies, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamaoto.2016.4765DOI Listing
June 2017

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

JAMA Otolaryngol Head Neck Surg 2017 02;143(2):168-177

Division of Pediatric Otolaryngology, Department of Otolaryngology, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamaoto.2016.3175DOI Listing
February 2017

CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression.

Cell 2017 02 16;168(5):801-816.e13. Epub 2017 Feb 16.

Section of Stem Cell Biology, Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; The McDonnell Genome Institute, Washington University, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5328582PMC
February 2017

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

Am J Med Genet A 2017 Jan 16;173(1):213-216. Epub 2016 Nov 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://doi.wiley.com/10.1002/ajmg.a.37977
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http://dx.doi.org/10.1002/ajmg.a.37977DOI Listing
January 2017

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015

Digynic triploidy: utility and challenges of noninvasive prenatal testing.

Clin Case Rep 2015 Jun 9;3(6):406-10. Epub 2015 Apr 9.

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine St. Louis, Missouri.

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http://dx.doi.org/10.1002/ccr3.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498852PMC
June 2015

Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.

Am J Med Genet A 2015 Apr 23;167A(4):816-20. Epub 2015 Feb 23.

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.1002/ajmg.a.36889DOI Listing
April 2015

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

Am J Hum Genet 2015 Apr;96(4):682-90

Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA; Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385182PMC
April 2015

FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

Skeletal Radiol 2015 Mar 15;44(3):441-5. Epub 2014 Aug 15.

Department of Radiology, St. Louis University School of Medicine, 3635 Vista Ave. at Grand Blvd., St. Louis, MO, 63110, USA,

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http://dx.doi.org/10.1007/s00256-014-1983-6DOI Listing
March 2015

A 5-month-old boy with delay in growth and development and decreased muscle tone.

Clin Chem 2015 Jan;61(1):50-4

Department of Pathology and Immunology, Division of Laboratory Medicine,

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http://dx.doi.org/10.1373/clinchem.2014.228486DOI Listing
January 2015

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Am J Hum Genet 2014 Nov 6;95(5):565-78. Epub 2014 Nov 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225592PMC
November 2014

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Am J Med Genet A 2014 Aug 28;164A(8):2003-12. Epub 2014 May 28.

Department of Medical Genetics, BC Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada; Division of Medical Genetics, Department of Biomedicine, University Hospitals Basel, Basel, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36605DOI Listing
August 2014

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Am J Med Genet A 2014 May 23;164A(5):1118-26. Epub 2014 Jan 23.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36401DOI Listing
May 2014

Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.

Pediatr Pulmonol 2014 Feb 4;49(2):E13-6. Epub 2013 Mar 4.

Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ppul.22731DOI Listing
February 2014

Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome.

JIMD Rep 2014 3;12:11-5. Epub 2013 Jul 3.

Department of Pediatrics, Division of Allergy, Immunology, and Pulmonary Medicine, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1007/8904_2013_238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897788PMC
January 2014

Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

Am J Med Genet A 2013 Apr 12;161A(4):711-6. Epub 2013 Mar 12.

Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.35779DOI Listing
April 2013

NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.

Am J Med Genet A 2013 Feb 8;161A(2):377-81. Epub 2013 Jan 8.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.35650DOI Listing
February 2013

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):137-44. Epub 2012 Dec 13.

Edward Mallinckrodt Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/ajmg.a.35701DOI Listing
January 2013

Acute intermittent porphyria: a diagnostic challenge.

J Child Neurol 2012 Jul 21;27(7):917-21. Epub 2011 Dec 21.

Department of Pediatrics, Division of Pediatric Nephrology, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1177/0883073811427603DOI Listing
July 2012

ADULT syndrome due to an R243W mutation in TP63.

Int J Dermatol 2012 Jun;51(6):693-6

Departments of Internal Medicine and Pediatrics, Division of Dermatology and Division of Genetics and Genomic Medicine, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1111/j.1365-4632.2011.05375.xDOI Listing
June 2012

Early-onset hepatic fibrosis in lysinuric protein intolerance.

J Pediatr Gastroenterol Nutr 2011 Dec;53(6):695-8

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1097/MPG.0b013e318227b02dDOI Listing
December 2011

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.

Pediatrics 2011 Dec 7;128(6):e1636-40. Epub 2011 Nov 7.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.1542/peds.2010-3518DOI Listing
December 2011

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.

Am J Med Genet A 2011 Jun 12;155A(6):1272-80. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33878DOI Listing
June 2011

McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses.

Pediatr Radiol 2010 Dec 6;40 Suppl 1:S16-20. Epub 2010 Jul 6.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1007/s00247-010-1762-zDOI Listing
December 2010

Increased homocysteine in a patient diagnosed with Marfan syndrome.

Clin Chem 2010 Nov;56(11):1665-8

Department of Pathology and Immunology, Washington University School of Medicine, One Children's Place, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1373/clinchem.2010.147702DOI Listing
November 2010

Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?

Am J Med Genet A 2010 Jul;152A(7):1832-7

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.a.33475DOI Listing
July 2010

Progressive myopathy with multiple symmetric lipomatosis.

Arch Neurol 2009 Dec;66(12):1576-7

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, One Children's Place, Northwest Tower, Ste 9132, St Louis, MO 63110, USA.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2009.239DOI Listing
December 2009

The Xp contiguous deletion syndrome and autism.

Am J Med Genet A 2009 Jun;149A(6):1138-48

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32833DOI Listing
June 2009

The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.

Autism Res 2009 Apr;2(2):98-108

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, 1102 Bates Street, FC148, Houston, TX 77030, USA.

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http://doi.wiley.com/10.1002/aur.70
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http://dx.doi.org/10.1002/aur.70DOI Listing
April 2009

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

Muscle Nerve 2009 Mar;39(3):374-82

Department of Molecular and Human Genetics, One Baylor Plaza, Room T619, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/mus.21157DOI Listing
March 2009

Is this the Coffin-Siris syndrome or the BOD syndrome?

Am J Med Genet A 2009 Mar;149A(3):559-62

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32671DOI Listing
March 2009

The array CGH and its clinical applications.

Drug Discov Today 2008 Sep 17;13(17-18):760-70. Epub 2008 Jul 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

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http://dx.doi.org/10.1016/j.drudis.2008.06.007DOI Listing
September 2008

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.

Am J Med Genet A 2008 Aug;146A(15):1933-41

Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32324
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http://dx.doi.org/10.1002/ajmg.a.32324DOI Listing
August 2008

Delineation of the proximal 3q microdeletion syndrome.

Am J Med Genet A 2008 Jul;146A(13):1729-35

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32292DOI Listing
July 2008

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.

Am J Med Genet A 2008 Jun;146A(11):1395-405

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32287DOI Listing
June 2008

Lymphedema of the lower extremity: is it genetic or nongenetic?

Authors:
Marwan Shinawi

Clin Pediatr (Phila) 2007 Nov 19;46(9):835-41. Epub 2007 Jul 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1177/0009922807303545DOI Listing
November 2007

Preaxial polydactyly in neurofibromatosis 1.

Clin Dysmorphol 2007 Jul;16(3):193-4

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1097/MCD.0b013e3280e1cc54DOI Listing
July 2007

Hyperhomocysteinemia and cobalamin disorders.

Authors:
Marwan Shinawi

Mol Genet Metab 2007 Feb;90(2):113-21

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room T619, Houston, TX 77030, USA. mshinawi@bcm:tmc:edu

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February 2007