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There are 22028 results for: content related to: MGAT2-CDG (CDG-IIa) and dysmorphism

  1. 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

  2. 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

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

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2974–2975, Jaak Jaeken

    Article first published online : 28 SEP 2012, DOI: 10.1002/ajmg.a.35314

  4. Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 245–246, Anas M. Alazami, Dorota Monies, Brian F. Meyer, Fatema Alzahrani, Mais Hashem, Mustafa A. Salih and Fowzan S. Alkuraya

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34347

  5. 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

  6. 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

  7. Mutation of CANT1 causes Desbuquois dysplasia

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1157–1160, Maha Faden, Fatema Al-Zahrani, Dia Arafah and Fowzan S. Alkuraya

    Article first published online : 13 APR 2010, DOI: 10.1002/ajmg.a.33404

  8. 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

  9. 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

  10. You have free access to this content
    Mutations in ALDH1A3 cause microphthalmia

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 128–131, M A Aldahmesh, A O Khan, H Hijazi and F S Alkuraya

    Article first published online : 27 MAY 2013, DOI: 10.1111/cge.12184

  11. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17

    Clinical Genetics

    Volume 80, Issue 5, November 2011, Pages: 489–492, M Al-Owain, AM Alazami and FS Alkuraya

    Article first published online : 18 OCT 2010, DOI: 10.1111/j.1399-0004.2010.01573.x

  12. 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

  13. 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

  14. Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1219–1223, O.Y. Al-Dirbashi, R. Shaheen, M. Al-Sayed, M. Al-Dosari, N. Makhseed, L. Abu Safieh, T. Santa, B.F. Meyer, N. Shimozawa and F.S. Alkuraya

    Article first published online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32874

  15. 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

  16. 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

  17. Johanson–Blizzard syndrome: Report of a novel mutation and severe liver involvement

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1875–1879, Mohammed S. Al-Dosari, Saleh Al-Muhsen, Ayman Al-Jazaeri, Julia Mayerle, Martin Zenker and Fowzan S. Alkuraya

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32401

  18. NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 371–375, A.M. Alazami, M.J. Alshammari, M. Baig, M.A. Salih, H.H. Hassan and F.S. Alkuraya

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12160

  19. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 203–208, FS Alkuraya

    Article first published online : 17 MAR 2013, DOI: 10.1111/cge.12131

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

    Clinical Genetics

    Volume 79, Issue 1, January 2011, Pages: 60–70, R Shaheen, OY Al-Dirbashi, ZN Al-Hassnan, M Al-Owain, N Makhsheed, F Basheeri, MZ Seidahmed, MAM Salih, E Faqih, H Zaidan, M Al-Sayed, Z Rahbeeni, T Al-Sheddi, M Hashem, W Kurdi, N Shimozawa and FS Alkuraya

    Article first published online : 1 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01498.x