Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Asia A. AlMulla"'
Autor:
Amal M. Yahya, Suleiman Al-Hammadi, Nidal O. AlHashaykeh, Salwa S. Alkaabi, Abdulghani S. Elomami, Asia A. AlMulla, Majed M. Alremeithi, Rewan M. Kabbary, Ranjit Vijayan, Abdul-Kader Souid
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
We present here a male young infant with X-linked severe combined immunodeficiency (MIM#300400) due to the novel nonsense variant of IL2RG (interleukin 2 receptor, gamma; MIM#308380), NM_000206.2(IL2RG):c.820_823dup p.Ser275Asnfs*29. He developed agg
Externí odkaz:
https://doaj.org/article/8efcd51f17b748ad95ae39d306a8ddc7
Autor:
Amal M. Yahya, Asia A. AlMulla, Haydar J. AlRufaye, Ahmed Al Dhaheri, Abdulghani S. Elomami, Suleiman Al-Hammadi, Lalitha Kailas, Ranjit Vijayan, Abdul-Kader Souid
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Fermitin family homolog 3 (FERMT3), alternatively kindlin-3 (KIND3), is an integrin binding protein (of 667 residues) encoded by the FERMT3 gene. The molecule is essential for activating integrin αIIbβ3 (the fibrinogen receptor) on platelets and fo
Externí odkaz:
https://doaj.org/article/2e71557ed5b0473dac3fe172645d6558
Autor:
Suleiman Al-Hammadi, Haydar J. AlRufaye, Ahmed Al Dhaheri, Abdulghani S Elomami, Asia A. AlMulla, Lalitha Kailas, Amal M. Yahya, Abdul-Kader Souid, Ranjit Vijayan
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics
Frontiers in Pediatrics
Fermitin family homolog 3 (FERMT3), alternatively kindlin-3 (KIND3), is an integrin binding protein (of 667 residues) encoded by the FERMT3 gene. The molecule is essential for activating integrin αIIbβ3 (the fibrinogen receptor) on platelets and fo
Autor:
Al Nuaimi M; Division of Pediatric Hematology and Oncology, Tawam Oncology Centre.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain., Al Khaaldi A; Department of Pediatrics, Al Qassimi Women and Children Hospital.; Sharjah University Hospital, Sharjah., Trad O; Division of Pediatric Hematology and Oncology, Tawam Oncology Centre., Almulla A; Division of Pediatric Hematology and Oncology, Tawam Oncology Centre.; Sharjah University Hospital, Sharjah., Al Rufaye H; Division of Pediatric Hematology and Oncology, Tawam Oncology Centre., Ghatasheh G; Department of Pediatrics, Division of Pediatric Infectious Diseases, Tawam Hospital., Al Dhaheri F; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain.; Pediatric Infectious Diseases Unit, Department of Pediatrics, Sheikh Khalifa Medical City, Abu-Dhabi, United Arab Emirates.
Publikováno v:
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2024 Aug 01; Vol. 46 (6), pp. e426-e429. Date of Electronic Publication: 2024 Jun 03.