Results 61 -
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652
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als
- ... Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, ... Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, ...
- ... Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Update of mutations in the genes ... Citation on PubMed Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which ...
- ... SAPOSIN B DEFICIENCY; MLDSAPB METACHROMATIC LEUKODYSTROPHY; MLD PubMed Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque ...
- ... 2012 Apr 14. Citation on PubMed Koul R, Al-Yarubi S, Al-Kindy H, Al-Futaisi A, Al-Thihli K, Chacko PA, Sankhla D. Rigid spinal ...
- ... HKLLS1 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 PubMed Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, ... 00019605-200310000-00003. Citation on PubMed Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, ...
- ... include a severe and progressive muscular disease called amyotrophic lateral sclerosis and progressive problems with movement and balance (Parkinson' ... limb-girdle, with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome Genetic Testing Registry: Inclusion body ...
- ... 3; ROBO3 NCBI Gene ClinVar Abu-Amero KK, al Dhalaan H, al Zayed Z, Hellani A, Bosley TM. Five new ... Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby ...
- ... H, Xu W, Yang Y, Zhao H, Shaffer AL, Romesser P, Wright G, Powell J, Rosenwald A, ... Creech CB, Ku CL, Ehl S, Marodi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, ...
- ... TO SAPOSIN A DEFICIENCY; KRBSAPA NCBI Gene ClinVar Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M. Sphingolipid activator ...
- ... GSSD ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 6; CNSHA6 PubMed Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, ...