Maha S Zaki

Maha S Zaki

UNVERIFIED PROFILE

Are you Maha S Zaki?   Register this Author

Register author
Maha S Zaki

Maha S Zaki

Publications by authors named "Maha S Zaki"

Are you Maha S Zaki?   Register this Author

93Publications

4290Reads

46Profile Views

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Behav Brain Res 2019 Oct 3;378:112272. Epub 2019 Oct 3.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, P.O. 12622, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbr.2019.112272DOI Listing
October 2019

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.

Am J Med Genet B Neuropsychiatr Genet 2019 Jul 29;180(5):305-309. Epub 2019 Apr 29.

Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Benha, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32729DOI Listing
July 2019

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Am J Med Genet A 2019 02 21;179(2):237-242. Epub 2018 Dec 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61021DOI Listing
February 2019

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Am J Hum Genet 2018 08 19;103(2):296-304. Epub 2018 Jul 19.

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080764PMC
August 2018

Extracellular miR-145, miR-223 and miR-326 expression signature allow for differential diagnosis of immune-mediated neuroinflammatory diseases.

J Neurol Sci 2017 Dec 15;383:188-198. Epub 2017 Nov 15.

Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2017.11.014DOI Listing
December 2017

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Am J Hum Genet 2017 Sep 17;101(3):441-450. Epub 2017 Aug 17.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949PMC
September 2017

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

Metab Brain Dis 2017 06 23;32(3):679-683. Epub 2017 Mar 23.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-017-9993-4DOI Listing
June 2017

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

J Hum Genet 2017 Apr 9;62(5):553-559. Epub 2017 Feb 9.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.4DOI Listing
April 2017

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Metab Brain Dis 2017 04 22;32(2):311-315. Epub 2017 Feb 22.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Giza, Cairo, 12311, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-017-9971-xDOI Listing
April 2017

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Metab Brain Dis 2016 10 7;31(5):1171-9. Epub 2016 Jul 7.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-016-9861-7DOI Listing
October 2016

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Eur J Paediatr Neurol 2016 Sep 30;20(5):714-22. Epub 2016 May 30.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993451PMC
September 2016

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Am J Med Genet A 2016 08 2;170(8):2133-40. Epub 2016 Jun 2.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37724DOI Listing
August 2016

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
Web Search
http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
Web Search
http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
August 2016

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Ann Neurol 2016 07 1;80(1):59-70. Epub 2016 Jun 1.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938747PMC
July 2016

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.

Am J Med Genet A 2016 Apr 8;170A(4):1050-8. Epub 2016 Jan 8.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37523DOI Listing
April 2016

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 2016 Apr 17;98(4):615-26. Epub 2016 Mar 17.

Department of Immunoregulation, Research Institute for Microbial Diseases, and World Premier International Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833197PMC
April 2016

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Am J Med Genet A 2016 Apr 5;170A(4):992-8. Epub 2016 Jan 5.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011457PMC
April 2016

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Am J Hum Genet 2016 Jan 17;98(1):210-5. Epub 2015 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2041209479/2055059602/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500484
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716667PMC
January 2016

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Hum Mol Genet 2015 Dec 18;24(24):6877-85. Epub 2015 Sep 18.

Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB 58051-900, Brazil, Department of Biology, Paraiba State University (UEPB), Campina Grande, PB 58429-500, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296331PMC
December 2015

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Am J Med Genet A 2015 Nov 24;167A(11):2503-2507. Epub 2015 Jun 24.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011459PMC
November 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Gene 2014 Apr 13;539(2):279-82. Epub 2014 Feb 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.01.070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226855PMC
April 2014

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Eur J Hum Genet 2014 Feb 10;22(2):286-8. Epub 2013 Jul 10.

1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895650PMC
February 2014

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2013 Aug 21;161A(8):1875-81. Epub 2013 Jun 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36009DOI Listing
August 2013

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Am J Med Genet A 2012 Nov 18;158A(11):2788-96. Epub 2012 Sep 18.

Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477270PMC
November 2012

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Am J Med Genet A 2012 Aug 11;158A(8):1823-31. Epub 2012 Jul 11.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35480DOI Listing
August 2012

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

Brain 2012 Aug 20;135(Pt 8):2416-27. Epub 2012 Jul 20.

Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, El-Tahrir Street, Dokki, Cairo 12311, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aws162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407423PMC
August 2012

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Am J Med Genet A 2011 Dec 14;155A(12):3035-41. Epub 2011 Oct 14.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415795PMC
December 2011

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.

Am J Med Genet A 2011 Dec 14;155A(12):3042-9. Epub 2011 Oct 14.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34173
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415794PMC
December 2011

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

Nat Med 2011 Jun 29;17(6):726-31. Epub 2011 May 29.

Laboratory for Neurogenetics, Howard Hughes Medical Institutes, Department of Pediatrics and Neurosciences, Institute for Genomic Medicine, University of California, San Diego, San Diego, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm.2380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110639PMC
June 2011

Congenital isolated leukonychia totalis in three Egyptian sibs.

Am J Med Genet A 2011 Apr 15;155A(4):811-4. Epub 2011 Mar 15.

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33907DOI Listing
April 2011

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

Am J Med Genet A 2009 Aug;149A(8):1789-94

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32983DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902654PMC
August 2009

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Am J Med Genet A 2008 Nov;146A(22):2929-36

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32549DOI Listing
November 2008

Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.

J Neurol 2008 Mar 26;255(3):413-9. Epub 2008 Feb 26.

Stem Cell Unit, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-008-0690-4DOI Listing
March 2008

Adams-Oliver syndrome: further evidence of an autosomal recessive variant.

Clin Dysmorphol 2007 Jul;16(3):141-9

Clinical Genetics Department, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e3280f9df22DOI Listing
July 2007

Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema.

Clin Dysmorphol 2006 Oct;15(4):245-7

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019605-200610000-000
Publisher Site
http://dx.doi.org/10.1097/01.mcd.0000220613.70649.09DOI Listing
October 2006

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

Brain Dev 2006 Sep 29;28(8):529-33. Epub 2006 Mar 29.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2006.01.009DOI Listing
September 2006

Assessment of pubertal development in Egyptian girls.

J Pediatr Endocrinol Metab 2005 Jun;18(6):577-84

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem.2005.18.6.577DOI Listing
June 2005

Hallervorden-Spatz syndrome. Variable imaging findings.

Neurosciences (Riyadh) 2004 Jul;9(3):214-7

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Center, El-Tahrir Street, Dokki, Cairo, Egypt. Tel. +202 5685026. E-mail:

View Article

Download full-text PDF

Source
July 2004