Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maha Abdulhadi-Atwan"'
Autor:
Tehila Klopstock, Maha Abdulhadi-Atwan, Ariella Weinberg-Shukron, Ephrat Levy-Lahad, Paul Renbaum, David Zangen, Muna Sharaf
Publikováno v:
American Journal of Medical Genetics Part A. 182:1268-1272
Processing of Precursor RNA 1 (POP1) is a core protein component shared by two essential closely related eukaryotic ribonucleoprotein complexes: RNase MRP (the mitochondrial RNA processing ribonuclease) and RNase P. Recently, five patients harboring
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::949bd736d5c73d38a37d7d6610c65c00
https://doi.org/10.1002/ajmg.a.61538
https://doi.org/10.1002/ajmg.a.61538
Autor:
Maha Abdulhadi-Atwan, David Zangen, Mira Korner, Floris Levy-Khademi, Perrin C. White, Abdulsalam Abu Libdeh, Emily Bosin
Publikováno v:
European Journal of Endocrinology. 162:221-226
BackgroundFamilial neurohypophyseal diabetes insipidus (FNDI), usually an autosomal dominant disorder, is caused by mutations in the arginine vasopressin (AVP)–neurophysin II preprohormone leading to aberrant preprohormone processing and gradual de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::440e88fa7501d582ba3937bfbbffc0b0
https://doi.org/10.1530/eje-09-0772
https://doi.org/10.1530/eje-09-0772
Autor:
Jeremy D. Bushman, Sharona Tornovsky-Babaey, Benjamin Glaser, Maha Abdulhadi-Atwan, Show Ling Shyng, David Zangen, Abdulsalam Abu-Libdeh, Avital Perry
Publikováno v:
Diabetes
OBJECTIVE—Congenital hyperinsulinism, usually associated with severe neonatal hypoglycemia, may progress to diabetes, typically during the 4th decade of life in nonpancreatectomized patients. We aimed to genotype the ATP-sensitive K+ channel in a 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c3a4908a488e161ce15e29a8f0e679
http://europepmc.org/articles/PMC2453628
http://europepmc.org/articles/PMC2453628
Autor:
Israela Lerer, Maha Abdulhadi-Atwan, Wendy K. Chung, Ziva Ben Neriah, Sharon E. Oberfield, Ilene Fennoy, Amy M. Jean, Svetlana Ten, Harry J. Hirsch, George Stratigopoulos, Amrit Bhangoo, Karen Meir, David Zangen
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 92:4000-4008
Congenital lipoid adrenal hyperplasia (CLAH), caused by mutations in steroidogenic acute regulatory protein (StAR), is most frequent in Japanese and Palestinians. We report eight Palestinians from four unrelated families with CLAH.The objective of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37065fc252bfaa960aa90021cb648131
https://doi.org/10.1210/jc.2007-1306
https://doi.org/10.1210/jc.2007-1306
Autor:
Ephrat Levy-Lahad, Paul Renbaum, Hila Fridman, Oded Breuer, Maha Abdulhadi-Atwan, Sharon Zeligson, David H Zangen
Publikováno v:
European journal of endocrinology. 167(2)
BackgroundKisspeptin 1 receptor (KISS1R) gene mutations are rare but have recently become an important etiology of normosmic isolated hypogonadotropic hypogonadism (IHH).ObjectivesTo characterize the genetic defect, the phenotype, and response to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::301e424289214010c406a1da4f185b40
https://pubmed.ncbi.nlm.nih.gov/22619348
https://pubmed.ncbi.nlm.nih.gov/22619348
Autor:
Liran Carmel, Shira Perlberg, Sharon Zeligson, Yotam Kaufman, Irit Kisslov, Moein Kanaan, David Zangen, Hila Fridman, Abdulsalam Abu Libdeh, Paul Renbaum, Ephrat Levy-Lahad, Ayal Gussow, Maha Abdulhadi-Atwan
Publikováno v:
The American Journal of Human Genetics. (4):572-579
XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be1d2b240e0504b4f2ffe1adb980f6ca