Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hajer Almulla"'
Autor:
Rehab, Ali, Nader, Al-Dewik, Shayma, Mohammed, Mahmud, Elfituri, Sahar, Agouba, Sara, Musa, Laila, Mahmoud, Mariam, Almulla, Karen, El-Akouri, Howaida, Mohd, Reem, Bux, Hajer, Almulla, Amna, Othman, Fatma, Al-Mesaifri, Noora, Shahbeck, Mariam, Al-Muriekhi, Amal, Khalifa, Reem, Al-Sulaiman, Tawfeg, Ben-Omran
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(1)
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4c72a362d84a8076c7051cfd88014dde
https://pubmed.ncbi.nlm.nih.gov/34590781
https://pubmed.ncbi.nlm.nih.gov/34590781
Autor:
Hossamaldein Gaber, Ali, Khalid, Ibrahim, Mahmoud Fawzi, Elsaid, Reem Babiker, Mohamed, Mahmoud I A, Abeidah, Azhar Othman, Al Rawwas, Khaled, Elshafey, Hajer, Almulla, Karen, El-Akouri, Mariam, Almulla, Amna, Othman, Sara, Musa, Fatma, Al-Mesaifri, Rehab, Ali, Noora, Shahbeck, Mariam, Al-Mureikhi, Reem, Alsulaiman, Saad, Alkaabi, Tawfeg, Ben-Omran
Publikováno v:
Gene Therapy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy medicine, FDA-approved in May 2019 for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::afbc230f4178c261b8fa0ddc3ce884d4
https://pubmed.ncbi.nlm.nih.gov/34276047
https://pubmed.ncbi.nlm.nih.gov/34276047
Publikováno v:
Blood. 138:1037-1037
Background and Objectives: Inherited Dysfibrinogenemia is a rare functional fibrinogen disorder in which the fibrinogen protein is present but with a reduced function. Fibrinogen is a 340-kDa glycoprotein that is encoded by three genes namely: Fibrin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43052c7c1c44bacd7b75075e482979d8
https://doi.org/10.1182/blood-2021-149446
https://doi.org/10.1182/blood-2021-149446