Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nadra Nasser Samra"'
Autor:
Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Hanna Mandel, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Uriel Katz, Ortal Barel, Nasrin Hamed, Bruria Ben-Zeev, Shoshana Greenberger, Nadra Nasser Samra, Michal Stern Zimmer, Annick Raas-Rothschild, Ben Pode-Shakked
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum
Externí odkaz:
https://doaj.org/article/8e8a48b5d2af47e29c4d8e95ea739427
Autor:
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100111- (2022)
Summary: CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene have been recently identified as a cause of Poirier-Bienve
Externí odkaz:
https://doaj.org/article/9ab8572fe2874d66a9f70e678cec119a
Autor:
Limor, Kalfon, Irit, Weissman, Miriam, Hershkovits, Nadra, Nasser Samra, Nurit, Edri, Morad, Khayat, Mary, Tanus, Shihab, Shihab, Hanna, Mandel, Tzipora, Falik-Zaccai
Publikováno v:
Harefuah. 156(3)
Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine: glyoxylate aminotransferase, AGT.To conduct clinical and genetic characterization of Druze and Muslim Arab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9bd3664f4530c66fa1566309d59a43e4
https://pubmed.ncbi.nlm.nih.gov/28551940
https://pubmed.ncbi.nlm.nih.gov/28551940