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There are 155786 results for: content related to: C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

  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. Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2647–2653, Tawfeg Ben-Omran, Rehab Ali, Mariam Almureikhi, Seham Alameer, Muna Al-Saffar, Christopher A. Walsh, Jillian M. Felie and Ahmad Teebi

    Article first published online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34219

  4. Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene

    Pediatric Dermatology

    Volume 31, Issue 1, January/February 2014, Pages: 83–87, Arti Nanda, Sandra M. Pasternack, Hassnaa Mahmoudi, Nina Ishorst, Ramon Grimalt and Regina C. Betz

    Article first published online : 9 SEP 2013, DOI: 10.1111/pde.12219

  5. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

    Movement Disorders

    Volume 28, Issue 6, June 2013, Pages: 795–803, Maja Kojovic, Isabel Pareés, Tania Lampreia, Karolina Pienczk-Reclawowicz, Georgia Xiromerisiou, Ignacio Rubio-Agusti, Milica Kramberger, Miryam Carecchio, Anas M. Alazami, Francesco Brancati, Jaroslaw Slawek, Zvezdan Pirtosek, Enza Maria Valente, Fowzan S. Alkuraya, Mark J. Edwards and Kailash P. Bhatia

    Article first published online : 15 FEB 2013, DOI: 10.1002/mds.25394

  6. 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

  7. 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

  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. 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

  10. 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

  11. Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2478–2480, Tawfeg Ben-Omran, Reem Alsulaiman, Hussein Kamel, Ranad Shaheen and Fowzan S. Alkuraya

    Article first published online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37175

  12. 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

  13. You have free access to this content
    In vivo assessment of wall shear stress in the atherosclerotic aorta using flow-sensitive 4D MRI

    Magnetic Resonance in Medicine

    Volume 63, Issue 6, June 2010, Pages: 1529–1536, Andreas Harloff, Andrea Nußbaumer, Simon Bauer, Aurélien F. Stalder, Alex Frydrychowicz, Cornelius Weiller, Jürgen Hennig and Michael Markl

    Article first published online : 23 APR 2010, DOI: 10.1002/mrm.22383

  14. 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

  15. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

    American Journal of Medical Genetics Part A

    Karen W. Gripp, Margaret P. Adam, Louanne Hudgins and John C. Carey

    Article first published online : 27 APR 2016, DOI: 10.1002/ajmg.a.37600

  16. You have full text access to this OnlineOpen article
    Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

    Neuropathology and Applied Neurobiology

    Volume 42, Issue 3, April 2016, Pages: 220–241, C. E. Arber, A. Li, H. Houlden and S. Wray

    Article first published online : 2 JUN 2015, DOI: 10.1111/nan.12242

  17. A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2093–2098, Mohammed Al-Dosari and Fowzan S. Alkuraya

    Article first published online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32996

  18. Wall shear stress estimated with phase contrast MRI in an in vitro and in vivo intracranial aneurysm

    Journal of Magnetic Resonance Imaging

    Volume 38, Issue 4, October 2013, Pages: 876–884, Pim van Ooij, Wouter V. Potters, Annetje Guédon, Joppe J. Schneiders, Henk A. Marquering, Charles B. Majoie, Ed vanBavel and Aart J. Nederveen

    Article first published online : 15 FEB 2013, DOI: 10.1002/jmri.24051

  19. ADAT3-related intellectual disability: Further delineation of the phenotype

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1142–1147, Ayman W. El-Hattab, Mohammed A. Saleh, Amal Hashem, Mohammed Al-Owain, Ali Al Asmari, Hala Rabei, Hanem Abdelraouf, Mais Hashem, Anas M. Alazami, Nisha Patel, Ranad Shaheen, Eissa A. Faqeih and Fowzan S. Alkuraya

    Article first published online : 3 FEB 2016, DOI: 10.1002/ajmg.a.37578

  20. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2386–2396, Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf and Andrew J. Carroll

    Article first published online : 16 AUG 2011, DOI: 10.1002/ajmg.a.34177