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There are 277121 results for: content related to: Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

  1. Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2629–2640, Mohammed Al-Owain, Hamad Al-Zaidan and Zuhair Al-Hassnan

    Article first published online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35551

  2. You have full text access to this OnlineOpen article
    Genetics and genomic medicine in Saudi Arabia

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 5, September 2014, Pages: 369–378, Fowzan S. Alkuraya

    Article first published online : 30 JUL 2014, DOI: 10.1002/mgg3.97

  3. Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 6, June 2012, Pages: 459–463, Eloisa Carta, Erwin Pauws, Anna C. Thomas, Konstantinos Mengrelis, Gudrun E. Moore, Melissa Lees and Philip Stanier

    Article first published online : 10 APR 2012, DOI: 10.1002/bdra.23008

  4. Molecular characterization of Joubert syndrome in Saudi Arabia

    Human Mutation

    Volume 33, Issue 10, October 2012, Pages: 1423–1428, Anas M. Alazami, Muneera J. Alshammari, Mustafa A. Salih, Fatema Alzahrani, Hadia Hijazi, Mohammed Z. Seidahmed, Leen Abu Safieh, Mazhor Aldosary, Arif O. Khan and Fowzan S. Alkuraya

    Article first published online : 11 JUL 2012, DOI: 10.1002/humu.22134

  5. Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees

    Unit

    Current Protocols in Human Genetics

    6:6.12.1–6.12.13

    Fowzan S. Alkuraya

    Published Online : 1 OCT 2012, DOI: 10.1002/0471142905.hg0612s75

  6. MGAT2-CDG (CDG-IIa) and dysmorphism

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Page: 2976, Fowzan S. Alkuraya

    Article first published online : 14 MAY 2012, DOI: 10.1002/ajmg.a.35375

  7. You have free access to this content
    Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 36–40, Nouran Adly, Amal Alhashem, Amer Ammari and Fowzan S. Alkuraya

    Article first published online : 25 NOV 2013, DOI: 10.1002/humu.22477

  8. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3095–3099, Dar-Shong Lin, Jui-Hsing Chang, Hsuan-Liang Liu, Chin-Hung Wei, Chun-Yan Yeung, Che-Sheng Ho, Chyong-Hsin Shu, Ming-Fu Chiang, Chih-Kuang Chuang, Yu-Wen Huang, Tsu-Yen Wu, Yuan-Ren Jian, Zon-Darr Huang and Shuan-Pei Lin

    Article first published online : 3 NOV 2011, DOI: 10.1002/ajmg.a.34326

  9. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 960–962, Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Mohammed H. Alghamdi and Fowzan S. Alkuraya

    Article first published online : 16 APR 2012, DOI: 10.1002/humu.22071

  10. Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 226–230, Fowzan S. Alkuraya, Angela E. Lin, Mira B. Irons and Virginia E. Kimonis

    Article first published online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30423

  11. Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 662–665, Mohamed A. Aldahmesh, Leen Abu-Safieh, Arif O. Khan, Zuhair N. Al-Hassnan, Ranad Shaheen, Mohammed Rajab, Dorota Monies, Brian F. Meyer and Fowzan S. Alkuraya

    Article first published online : 12 MAR 2009, DOI: 10.1002/ajmg.a.32753

  12. GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1281–1284, Namik Kaya, Mohammad Al- Owain, Nada AbuDheim, Jawaher Al- Zahrani, Dilek Colak, Moeen Al- Sayed, Aysel Milanlioglu, Pinar T. Ozand and Fowzan S. Alkuraya

    Article first published online : 12 MAY 2011, DOI: 10.1002/ajmg.a.33932

  13. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for “ring chromosome 2 syndrome”

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 4, 1 February 2005, Pages: 447–449, Fowzan S. Alkuraya, Virginia E. Kimonis, Laura Holt and Joyce L. Murata-Collins

    Article first published online : 3 DEC 2004, DOI: 10.1002/ajmg.a.30437

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

    Human Mutation

    Volume 32, Issue 6, June 2011, Pages: 573–578, Ranad Shaheen, Eissa Faqeih, Mohammed Z. Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah and Fowzan S. Alkuraya

    Article first published online : 5 MAY 2011, DOI: 10.1002/humu.21507

  15. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 931–938, Kerry K. Brown, Fowzan S. Alkuraya, Michael Matos, Richard L. Robertson, Virginia E. Kimonis and Cynthia C. Morton

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32764

  16. Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 186–193, Angela E. Lin, Barbara R. Pober, Mary P. Mullen and Anne M. Slavotinek

    Article first published online : 10 NOV 2005, DOI: 10.1002/ajmg.a.31023

  17. Preimplantation genetic diagnosis in Saudi Arabia: parents' experience and attitudes

    Prenatal Diagnosis

    Volume 30, Issue 8, August 2010, Pages: 753–757, Ayman Alsulaiman, Ali Al-Odaib, Al Rijjal and Jenny Hewison

    Article first published online : 30 JUN 2010, DOI: 10.1002/pd.2532

    Corrected by:

    Erratum: Erratum: Preimplantation genetic diagnosis in Saudi Arabia: parents' experience and attitudes

    Vol. 31, Issue 4, 415, Article first published online: 17 JAN 2011

  18. Weaver syndrome and defective cortical development: A rare association

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 225–227, Ahmed Al-Salem, Muneera J. Alshammari, Hamdy Hassan, Anas M. Alazami and Fowzan S. Alkuraya

    Article first published online : 13 DEC 2012, DOI: 10.1002/ajmg.a.35660

  19. A case of de Barsy syndrome with a severe eye phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2364–2366, Mohammed Al-Owain, Shamsa Alanazi, Ola Khalifa, Amal Al-Hemidan, Loai Al-Ebdi, Bandar Al-Saud and Fowzan S. Alkuraya

    Article first published online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35507

  20. The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1195–1199, Mohammed A. Aldahmesh, Muneera J. Alshammari, Arif O. Khan, Jawahir Y. Mohamed, Fatimah A. Alhabib and Fowzan S. Alkuraya

    Article first published online : 19 JUL 2013, DOI: 10.1002/humu.22374