Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Saad El Riati"'
Autor:
Iris Har-Vardi, Richard J. McKenney, Saad El Riati, Ohad Wormser, Kyoko Okada, Maurizio Gatti, Lucia Graziadio, Eliahu Levitas, Silvia Bonaccorsi, Anna Bakhrat, Ygal Levy, Mahmoud Huleihel, Uri Abdu, Ali AbuMadighem, Ohad S. Birk
Publikováno v:
Journal of Medical Genetics. 58:254-263
BackgroundMutationin S-phase cyclin A-associated protein rin the endoplasmic reticulum(SCAPER) have been found across ethnicities and have been shown to cause variable penetrance of an array of pathological traits, including intellectual disability,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14c0034b121aa21f26a8d42f76619d54
https://doi.org/10.1136/jmedgenet-2020-106946
https://doi.org/10.1136/jmedgenet-2020-106946
Autor:
Ohad, Wormser, Ygal, Levy, Anna, Bakhrat, Silvia, Bonaccorsi, Lucia, Graziadio, Maurizio, Gatti, Ali, AbuMadighem, Richard J, McKenney, Kyoko, Okada, Saad, El Riati, Iris, Har-Vardi, Mahmoud, Huleihel, Eliahu, Levitas, Ohad S, Birk, Uri, Abdu
Publikováno v:
Journal of medical genetics. 58(4)
MutationHuman clinical phenotyping, surgical testicular sperm extraction and testicular tissue staining. Generation and analysis ofWe show that patients homozygous for aOur results show that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a5c7ee5c28a7c8c87340fb3a1d1aff75
https://pubmed.ncbi.nlm.nih.gov/32527956
https://pubmed.ncbi.nlm.nih.gov/32527956
Autor:
Natalie Elia, Roni Gat, Rotem Kadir, Libe Gradstein, Uri Abdu, Yuval Yogev, Inna Goliand, Max Drabkin, Yonatan Perez, Einat Kadar, Ohad S. Birk, Muhamad Iraqi, Sara Sivan, Saad El Riati, Ruth Birk, Amir Horev, Yair Sadka, Dikla Nachmias, Ohad Wormser, Daniel Halperin, Hagit Flusser
Publikováno v:
Eur J Hum Genet
Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, short stature and bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e5cdd2d2d6233d26804b65f12d5b617
https://pubmed.ncbi.nlm.nih.gov/30723319
https://pubmed.ncbi.nlm.nih.gov/30723319