Publications by authors named "Nathaniel H Robin"

84Publications

Dysmorphology in the Era of Genomic Diagnosis.

J Pers Med 2020 Mar 17;10(1). Epub 2020 Mar 17.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35243, USA.

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http://dx.doi.org/10.3390/jpm10010018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151624PMC
March 2020

Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.

Pediatr Blood Cancer 2020 03 18;67(3):e28116. Epub 2019 Dec 18.

Pediatric Hematology Oncology, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/pbc.28116DOI Listing
March 2020

The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.

Am J Med Genet A 2020 02 8;182(2):314-321. Epub 2019 Dec 8.

Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.61425DOI Listing
February 2020

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.

Am J Med Genet A 2018 12 14;176(12):2791-2797. Epub 2018 Sep 14.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://doi.wiley.com/10.1002/ajmg.a.40492
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http://dx.doi.org/10.1002/ajmg.a.40492DOI Listing
December 2018

Teaching dysmorphology in the era of genomics: new technologies, new learners.

Curr Opin Pediatr 2018 12;30(6):699-700

Departments of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000678DOI Listing
December 2018

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Am J Med Genet A 2018 06 16;176(6):1423-1426. Epub 2018 Apr 16.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.38700DOI Listing
June 2018

A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

Clin Case Rep 2018 04 14;6(4):612-616. Epub 2018 Feb 14.

Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.

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http://dx.doi.org/10.1002/ccr3.1298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889218PMC
April 2018

Programme directors' opinions on medical genetics education in pediatric residency programmes.

Curr Opin Pediatr 2017 12;29(6):619-621

aDepartment of Genetics bDepartment of Pediatrics cDepartment of Otolaryngology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000557DOI Listing
December 2017

Foramen magnum compression in Coffin-Lowry syndrome: A case report.

Am J Med Genet A 2017 Apr 12;173(4):1087-1089. Epub 2017 Feb 12.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.38095DOI Listing
April 2017

Growth parameters: the cheap and easy genetic test.

Curr Opin Pediatr 2016 12;28(6):679-681

Departments of Genetics, Pediatrics, and Surgery/Otolaryngology, University of Alabama at Birmingham, Birmingham, Alabama, United States.

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http://dx.doi.org/10.1097/MOP.0000000000000423DOI Listing
December 2016

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.

Genet Med 2017 04 15;19(4):377-385. Epub 2016 Sep 15.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/gim.2016.132DOI Listing
April 2017

Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists.

Am J Med Genet A 2016 10 17;170(10):2638-43. Epub 2016 Jun 17.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.37807DOI Listing
October 2016

Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.

Am J Med Genet A 2016 Apr 5;170A(4):838-46. Epub 2016 Jan 5.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.37529DOI Listing
April 2016

Editorial: The genetics assessment of pediatric cancer.

Curr Opin Pediatr 2015 Dec;27(6):657-8

aDepartment of Genetics bDepartment of Pediatrics cDepartment of Surgery, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000289DOI Listing
December 2015

Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.

Am J Med Genet A 2016 Jan 30;170A(1):260-2. Epub 2015 Sep 30.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://doi.wiley.com/10.1002/ajmg.a.37408
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http://dx.doi.org/10.1002/ajmg.a.37408DOI Listing
January 2016

IRF6 Sequencing in Interrupted Clefting.

Cleft Palate Craniofac J 2016 05 19;53(3):373-6. Epub 2015 Jun 19.

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http://dx.doi.org/10.1597/14-204DOI Listing
May 2016

Newborn craniofacial malformations: orofacial clefting and craniosynostosis.

Clin Perinatol 2015 Jun 15;42(2):321-36, viii. Epub 2015 Apr 15.

Department of Genetics, The University of Alabama at Birmingham, 213 Kaul Human Genetics Building, 720 20th Street South, Birmingham, AL 35294, USA; Department of Pediatrics, The University of Alabama at Birmingham, 1600 7th Avenue South, CPPI 310, Birmingham, AL 35233, USA; Division of Otolaryngology, Department of Surgery, The University of Alabama at Birmingham, 563 Boshell Building, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.02.005DOI Listing
June 2015

Sex-discordant monochorionic twins with blood and tissue chimerism.

Am J Med Genet A 2015 Apr 23;167A(4):872-7. Epub 2015 Feb 23.

Division of Genetics, Department of Pediatrics, School of Medicine University of Texas at Houston, Houston, Texas; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.37022DOI Listing
April 2015

The use by medical examiners of genetic testing for long QT syndrome in suspected sudden cardiac death.

Arch Pathol Lab Med 2014 Nov;138(11):1425

Department of Medicine, University of Alabama, at Birmingham School, of Medicine.

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http://dx.doi.org/10.5858/arpa.2014-0099-LEDOI Listing
November 2014

Array comparative genomic hybridisation testing in CHD.

Cardiol Young 2015 Aug 8;25(6):1155-72. Epub 2014 Oct 8.

1Department of Pediatrics,University of Alabama at Birmingham,Birmingham,Alabama,United States of America.

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http://dx.doi.org/10.1017/S1047951114001838DOI Listing
August 2015

International adoption of children with birth defects: current knowledge and areas for further research.

Curr Opin Pediatr 2014 Dec;26(6):621-5

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MOP.0000000000000144DOI Listing
December 2014

Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization.

J Pediatr 2014 Nov 4;165(5):1057-9.e1-4. Epub 2014 Sep 4.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL; Department of Otolarnygology, University of Alabama at Birmingham, Birmingham, AL. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.07.042DOI Listing
November 2014

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Am J Med Genet A 2014 Feb 5;164A(2):516-21. Epub 2013 Dec 5.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://doi.wiley.com/10.1002/ajmg.a.36299
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http://dx.doi.org/10.1002/ajmg.a.36299DOI Listing
February 2014

We need to know our limitations: genetic testing for complex traits.

Curr Opin Pediatr 2013 Dec;25(6):643-4

aUniversity of Alabama at Birmingham, School of Medicine Class of 2016 bDepartment of Genetics cDepartment of Pediatrics dSurgery/Otolaryngology, University of Alabama at Birmingham, Alabama, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000025DOI Listing
December 2013

Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.

Am J Med Genet A 2013 Aug 27;161A(8):2024-6. Epub 2013 Jun 27.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1002/ajmg.a.36004DOI Listing
August 2013

Utilizing high-fidelity crucial conversation simulation in genetic counseling training.

Am J Med Genet A 2013 Jun 30;161A(6):1273-7. Epub 2013 Apr 30.

Department of Clinical and Diagnostic Sciences, University of Alabama at Birmingham, Birmingham, Alabama 35233, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35952
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http://dx.doi.org/10.1002/ajmg.a.35952DOI Listing
June 2013

Educating the adolescent and young adult with cystic fibrosis about their reproductive risks and options.

Chest 2013 Feb;143(2):580-581

Departments of Genetics, Pediatrics, and Surgery, The University of Alabama at Birmingham, Birmingham, AL. Electronic address:

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http://dx.doi.org/10.1378/chest.12-2091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566998PMC
February 2013

The development and implementation of an in-service exam for medical genetics residency programs.

Genet Med 2012 May 26;14(5):552-7. Epub 2012 Jan 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://www.nature.com/articles/gim201141
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http://dx.doi.org/10.1038/gim.2011.41DOI Listing
May 2012

Genetic drift. The mall test (or fun with a dysmorphologist).

Am J Med Genet A 2011 Dec 7;155A(12):2909. Epub 2011 Nov 7.

The Departments of Genetics and Pediatrics, University of Alabama, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1002/ajmg.a.34303DOI Listing
December 2011

Dysmorphology in the era of whole exome sequencing.

Curr Opin Pediatr 2011 Dec;23(6):579-80

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http://dx.doi.org/10.1097/MOP.0b013e32834bfa5aDOI Listing
December 2011

Direct-to-consumer genetic testing.

Curr Opin Pediatr 2010 Dec;22(6):685-6

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http://dx.doi.org/10.1097/MOP.0b013e3283402e50DOI Listing
December 2010

IRF6 mutations in mixed isolated familial clefting.

Am J Med Genet A 2010 Dec;152A(12):3107-9

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1002/ajmg.a.33053DOI Listing
December 2010

Use of array comparative genome hybridization in orofacial clefting.

J Craniofac Surg 2010 Sep;21(5):1591-4

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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https://insights.ovid.com/crossref?an=00001665-201009000-000
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http://dx.doi.org/10.1097/SCS.0b013e3181ebcc9cDOI Listing
September 2010

Further delineation of the Kapur-Toriello syndrome.

Am J Med Genet A 2010 Apr;152A(4):1013-5

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33349
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http://dx.doi.org/10.1002/ajmg.a.33349DOI Listing
April 2010

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Am J Med Genet A 2010 Feb;152A(2):438-40

University of Alabama School of Medicine, Birmingham, Alabama, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33207
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http://dx.doi.org/10.1002/ajmg.a.33207DOI Listing
February 2010

Amniotic constriction band: a multidisciplinary assessment of etiology and clinical presentation.

J Bone Joint Surg Am 2009 Jul;91 Suppl 4:68-75

Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis, MO 63110, USA.

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http://dx.doi.org/10.2106/JBJS.I.00339DOI Listing
July 2009

AsktheGeneticist: five years of online experience.

Genet Med 2009 Apr;11(4):294-304

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31819b2441DOI Listing
April 2009

Treatment for genetic diseases.

Curr Opin Pediatr 2008 Dec;20(6):625-7

Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building, Room 210, 1530 3rd Av. South, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1097/mop.0b013e3283189c3eDOI Listing
December 2008

A genetic model for cloacal exstrophy, the extreme cloacal malformation.

J Pediatr Urol 2007 Jun 20;3(3):214-7. Epub 2006 Oct 20.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1016/j.jpurol.2006.08.003DOI Listing
June 2007

The use of role-play to enhance medical student understanding of genetic counseling.

Genet Med 2008 Oct;10(10):739-44

Departments of Genetics , University of Alabama at Birmingham, Birmingham, Alabama 35243, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318187762eDOI Listing
October 2008

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Am J Med Genet A 2008 Sep;146A(17):2308-11

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.32445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774842PMC
September 2008

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

J Craniofac Surg 2008 Jan;19(1):279-83

Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1097/SCS.0b013e31815ca067DOI Listing
January 2008

The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay.

Am J Med Genet A 2008 Feb;146A(4):421-5

University of Alabama School of Medicine, Birmingham, Alabama 35243, USA.

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http://dx.doi.org/10.1002/ajmg.a.32150DOI Listing
February 2008

Genetic testing in cardiovascular disease.

J Am Coll Cardiol 2007 Aug 6;50(8):727-37. Epub 2007 Aug 6.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1016/j.jacc.2007.05.015DOI Listing
August 2007

Pediatric otolaryngologists' use of genetic testing.

Arch Otolaryngol Head Neck Surg 2007 Mar;133(3):231-6

Department of Surgery, University of Alabama at Birmingham, USA.

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http://dx.doi.org/10.1001/archotol.133.3.231DOI Listing
March 2007

The multidisciplinary evaluation and management of cleft lip and palate.

South Med J 2006 Oct;99(10):1111-20

Department of Genetics, University of Alabama at Birmingham, Birmingham AL 35294, USA.

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http://dx.doi.org/10.1097/01.smj.0000209093.78617.3aDOI Listing
October 2006

It does matter: the importance of making the diagnosis of a genetic syndrome.

Curr Opin Pediatr 2006 Dec;18(6):595-7

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http://dx.doi.org/10.1097/01.mop.0000247536.78273.78DOI Listing
December 2006

Dysmorphic and anthropometric outcomes in 6-year-old prenatally cocaine-exposed children.

Neurotoxicol Teratol 2006 Jan-Feb;28(1):28-38. Epub 2005 Nov 18.

Department of General Medical Sciences, Case Western Reserve University, 11400 Euclid Avenue, The Triangle, Suite 250, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.ntt.2005.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629648PMC
May 2006

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.

Am J Med Genet A 2005 Sep;137A(3):298-301

Department of Genetics, University of Alabama at Birmingham, 35294-0024, USA.

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http://dx.doi.org/10.1002/ajmg.a.30885DOI Listing
September 2005

Defining the clinical spectrum of deletion 22q11.2.

J Pediatr 2005 Jul;147(1):90-6

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1016/j.jpeds.2005.03.007DOI Listing
July 2005

Genetic testing will bring interesting times to clinical practice.

Curr Opin Pediatr 2004 Dec;16(6):667-9

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http://dx.doi.org/10.1097/01.mop.0000143966.29532.49DOI Listing
December 2004

Genetic testing for deafness is here, but how do we do it?

Genet Med 2004 Nov-Dec;6(6):463-4

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http://dx.doi.org/10.1097/01.gim.0000144186.09716.cfDOI Listing
February 2005

The primary care physician's approach to congenital anomalies.

Prim Care 2004 Sep;31(3):605-19, x

Departments of Genetics and Pediatrics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 11100 Euclid Avenue, Lakeside 1500, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.pop.2004.04.015DOI Listing
September 2004

Cardiomyopathy in Coffin-Lowry syndrome.

Am J Med Genet A 2004 Jul;128A(2):176-8

Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.30056DOI Listing
July 2004

Cohen syndrome in the Ohio Amish.

Am J Med Genet A 2004 Jul;128A(1):23-8

Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.30033DOI Listing
July 2004

Medical Geneticists' duty to warn at-risk relatives for genetic disease.

Am J Med Genet A 2003 Jul;120A(3):374-80

Department of Genetics, Center for Human Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.20227DOI Listing
July 2003

Genetic drift. A few moments.

Am J Med Genet A 2003 Jun;119A(3):397-9

Department of Genetics, Case Western Reserve University School of Medicine, and the University Hospitals of Cleveland, Cleveland, Ohio , USA.

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http://dx.doi.org/10.1002/ajmg.a.10213DOI Listing
June 2003

Duty to warn at-risk relatives for genetic disease: genetic counselors' clinical experience.

Am J Med Genet C Semin Med Genet 2003 May;119C(1):27-34

Hutzel Hospital, Detroit, MI, USA.

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http://dx.doi.org/10.1002/ajmg.c.10005DOI Listing
May 2003

Genetic drift. A smile.

Am J Med Genet A 2003 May;118A(4):404-6

The Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, and The University Hospitals of Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.10212DOI Listing
May 2003

Attitudes of African American premedical students toward genetic testing and screening.

Genet Med 2003 Jan-Feb;5(1):49-54

Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1097/00125817-200301000-00008DOI Listing
August 2003

Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness.

J Commun Disord 2002 Jul-Aug;35(4):367-77

Department of Otolaryngology, University of Iowa, Iowa City 52242, USA.

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http://dx.doi.org/10.1016/s0021-9924(02)00091-6DOI Listing
January 2003

Delay in diagnosis of Williams syndrome.

Clin Pediatr (Phila) 2002 May;41(4):257-61

Department of Pediatrics, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, OH, USA.

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http://dx.doi.org/10.1177/000992280204100410DOI Listing
May 2002

Mixed clefting type in Rapp-Hodgkin syndrome.

Am J Med Genet 2002 Apr;108(4):281-4

The Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospital of Cleveland, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.10165DOI Listing
April 2002