All Stories

  1. Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

    Article • Clinical Genetics, September 2018, Wiley

    mohammed zain seidahmed, ZUHAIR Rahbeeni

  2. The genetic landscape of familial congenital hydrocephalus

    Article • Annals of Neurology, June 2017, Wiley

    mohammed zain seidahmed

  3. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

    Article • BMC Neurology, July 2016, Springer Science + Business Media

    mohammed zain seidahmed

  4. Gonadal mosaicism forACTA1gene masquerading as autosomal recessive nemaline myopathy

    Article • American Journal of Medical Genetics Part A, May 2016, Wiley

    mohammed zain seidahmed

  5. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    Article • The American Journal of Human Genetics, April 2016, Elsevier

    mohammed zain seidahmed

  6. A case of reversible cardiomyopathy & left ventricular noncompaction

    Article • Journal of Integrative Cardiology, January 2016, Open Access Text Pvt, Ltd.

    mohammed zain seidahmed

  7. Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

    Article • Human Mutation, August 2015, Wiley

    mohammed zain seidahmed

  8. Identification of a novel MKS locus defined byTMEM107mutation

    Article • Human Molecular Genetics, June 2015, Oxford University Press (OUP)

    mohammed zain seidahmed

  9. Report of a case of Raine syndrome and literature review

    Article • American Journal of Medical Genetics Part A, May 2015, Wiley

    mohammed zain seidahmed

  10. Epidemiology of neural tube defects

    Article • Saudi Medical Journal, March 2015, Saudi Medical Journal

    mohammed zain seidahmed, Professor Mahmood Dhahir Al-Mendalawi

  11. Congenital Midline Cervical Cleft: Case Report and Literature Review

    Article • Journal of Clinical Neonatology, January 2015, Medknow

    mohammed zain seidahmed

  12. Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

    Article • The American Journal of Human Genetics, January 2014, Elsevier

    mohammed zain seidahmed

  13. Neurologic Injury in Isolated Sulfite Oxidase Deficiency

    Article • Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, January 2014, Cambridge University Press

    mohammed zain seidahmed

  14. Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

    Article • Molecular Genetics & Genomic Medicine, December 2013, Wiley

    mohammed zain seidahmed

  15. A Saudi patient with an interstitial deletion of short arm of chromosome

    Article • Journal of Clinical Neonatology, January 2013, Medknow

    mohammed zain seidahmed

  16. Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

    Article • European Journal of Human Genetics, November 2012, Springer Science + Business Media

    mohammed zain seidahmed

  17. A novel syndrome of lethal familial hyperekplexia associated with brain malformation

    Article • BMC Neurology, October 2012, Springer Science + Business Media

    mohammed zain seidahmed

  18. Molecular characterization of Joubert syndrome in Saudi Arabia

    Article • Human Mutation, July 2012, Wiley

    mohammed zain seidahmed

  19. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

    Article • American Journal of Medical Genetics Part A, May 2011, Wiley

    mohammed zain seidahmed

  20. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

    Article • Human Mutation, May 2011, Wiley

    mohammed zain seidahmed

  21. Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

    Article • BMC Research Notes, January 2011, Springer Science + Business Media

    mohammed zain seidahmed

  22. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

    Article • Clinical Genetics, December 2010, Wiley

    mohammed zain seidahmed

  23. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

    Article • Brain, July 2010, Oxford University Press (OUP)

    mohammed zain seidahmed

  24. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

    Article • Neurogenetics, July 2010, Springer Science + Business Media

    mohammed zain seidahmed

  25. Ophthalmic Features of Joubert Syndrome

    Article • Ophthalmology, December 2008, Elsevier

    mohammed zain seidahmed

  26. A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype

    Article • Birth Defects Research Part A Clinical and Molecular Teratology, January 2006, Wiley

    mohammed zain seidahmed

  27. Brain Stem and Cerebellar Findings in Joubert Syndrome

    Article • Journal of Computer Assisted Tomography, January 2006, Wolters Kluwer Health

    mohammed zain seidahmed

  28. Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency

    Article • American Journal of Medical Genetics Part A, July 2005, Wiley

    mohammed zain seidahmed

  29. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder

    Article • Human Molecular Genetics, December 2004, Oxford University Press (OUP)

    mohammed zain seidahmed

  30. Intravenous immunoglobulin G (IVIG) therapy for significant hyperbilirubinemia in ABO hemolytic disease of the newborn

    Article • The Journal of Maternal-Fetal & Neonatal Medicine, September 2004, Taylor & Francis

    mohammed zain seidahmed

  31. Intravenous immunoglobulin G (IVIG) therapy for significant hyperbilirubinemia in ABO hemolytic disease of the newborn

    Article • The Journal of Maternal-Fetal & Neonatal Medicine, January 2004, Taylor & Francis

    mohammed zain seidahmed

  32. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome

    Article • American Journal of Medical Genetics, July 1999, Wiley

    mohammed zain seidahmed

  33. Pattern of blood 17-hydroxyprogesterone concentration and distribution among neonates in Saudi Arabia

    Article • Screening, September 1995, Elsevier

    mohammed zain seidahmed