Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lina Elbaik"'
Autor:
Khushnooda Ramzan, Nouf S. Al-Numair, Sarah Al-Ageel, Lina Elbaik, Nadia Sakati, Selwa A. F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz
Publikováno v:
Genes, Vol 11, Iss 12, p 1474 (2020)
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The en
Externí odkaz:
https://doaj.org/article/ce0d911904614dd1a1611ef74a89079d
Autor:
Ola Khalifa, Magdy M. Hassan, Eman M. Saleh, Rehab M. Abdul-Mawgoud, Amr S. Moustafa, Dina M. Seoudi, Faiqa Imtiaz, Osama K. Zaki, Khushnooda Ramzan, Nahla S. Hassan, Shaimaa Rihan, Ehab HamedAbdel Salam, Lina Elbaik, Radwa Gamal
Publikováno v:
American Journal of Medical Genetics Part A. 182:2486-2500
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder due to defects in the branched-chain α-ketoacid dehydrogenase complex (BCKDC). MSUD varies in severity and its clinical spectrum is quite broad, ranging from mild to s
Autor:
Esraa Abu-Douleh, Tarek Owaidah, Nouf S. Al-Numair, Ahmed Tarawah, Mahasen Saleh, Lina Elbaik, Faiqa Imtiaz, Hazzaa Alzahrani, Khushnooda Ramzan
Publikováno v:
Blood Coagulation & Fibrinolysis. 30:224-232
Coagulation factor V plays a significant role in the blood coagulation cascade as part of the prothrombinase complex. Factor V deficiency (FVD) is a rare autosomal recessive bleeding disorder with a variable phenotypic expression which varies from be
Autor:
Faiqa Imtiaz, Nadia Sakati, Lina Elbaik, Nouf S. Al-Numair, Khushnooda Ramzan, Mohammed Al-Owain, Selwa A.F. Al-Hazzaa, Sarah Al-Ageel
Publikováno v:
Genes
Genes, Vol 11, Iss 1474, p 1474 (2020)
Volume 11
Issue 12
Genes, Vol 11, Iss 1474, p 1474 (2020)
Volume 11
Issue 12
Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The en