Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Fahad Al Abbas"'
Autor:
Aida M. Bertoli-Avella, Samah Al-Tawalbeh, Nadia Al-Hashmi, Melis Köse, Roberta Trunzo, Fahad Al Abbas, Hasan Tawamie, Vasiliki Karageorgou, Peter Bauer, Ana Westenberger, Ghaleb Elyamany, Omar Abu Adas Blanco, Fuad Al Mutairi, Bruno Reversade, Kornelia Tripolszki, Salem Alawbathani, Mariam Al-Hilali, Fadiah Al-Khattabi, Suliman Khan, André Mégarbané, Natalia Ordonez-Herrera, Mohammed Al-raqad, Danielle Sng, Amal Alhashem, Ruslan Al-Ali, Nashat Al Sukaiti, Homoud Al Hebby
Publikováno v:
Clinical genetics, 101(2), 247-254. Wiley-Blackwell
Biallelic changes in the ZNFX1 gene have been recently reported to cause severe familial immunodeficiency. Through a search of our bio/databank with information from genetic testing of >55 000 individuals, we identified nine additional patients from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a003e0795604c54d0e6cbc4601ab971e
https://hdl.handle.net/11454/77517
https://hdl.handle.net/11454/77517
Autor:
Abdulelah Qadi, Aly Ezzat, Ayman Al Hejazi, Fahad Al Abbas, Ghaleb Elyamany, Hussain Al Saeed, Marwan ElBagoury, Ohoud Kashari, Sherif Roushdy, Yahia Aktham
UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid componen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20dab223e989ca596d80b57e92a48c36
https://doi.org/10.2196/preprints.28607
https://doi.org/10.2196/preprints.28607
Autor:
Victor S. Blanchette, Boonchai Boonyawat, Josef T. Prchal, Leslie Steele, Sabina Swierczek, Fahad al Abbas, Eyal Grunenbaum, Chaim M. Roifman, Qili Zhu, Yigal Dror, Bozana Zlateska, Hans D. Ochs, Troy R. Torgerson, Stephen Meyn, Stephen W. Scherer, Santhosh Dhanraj
Publikováno v:
Journal of clinical immunology. 33(7)
Disorders linked to mutations in the X chromosomes typically affect males. The aim of the study is to decipher the mechanism of disease expression in a female patient with a heterozygous mutation on the X-chromosome.Clinical data was extracted from t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7996dd02f6df5012b240e7042981571
https://pubmed.ncbi.nlm.nih.gov/23943155
https://pubmed.ncbi.nlm.nih.gov/23943155
