Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Aziza M. Mushiba"'
Autor:
Mohammed Ayed Huneif, Ziyad Hamad Alhazmy, Anas M. Shoomi, Mohammed A. Alghofely, Humariya Heena, Aziza M. Mushiba, Abdulhamid Alsaheel
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 244-250 (2022)
Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients wi
Externí odkaz:
https://doaj.org/article/11fab897e5864f2bbed7ac3544d00bdd
Autor:
Anas M Shoomi, Abdulhamid AlSaheel, Mohammed Ayed Huneif, Ziyad Hamad AlHazmy, Mohammed A. AlGhofely, Humariya Heena, Aziza M Mushiba
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 14:244-250
Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium levels. The abnormality results from mutations in the gene-encoding subunits of the epithelial sodium channel (ENaC). Patien
Autor:
Mohammad M Alomaim, Aziza M Mushiba
Publikováno v:
Cureus.
Autor:
Abdulrahman Alswaid, Khushnooda Ramzan, Amal Alhashem, Mohammed A. Saleh, Faiqa Imtiaz, Eissa Faqeih, Aziza M. Mushiba, Mohammed Al-Owain
Publikováno v:
American Journal of Medical Genetics Part A. 185:2455-2463
Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical detail
Autor:
Mohammed Ayed, Huneif, Ziyad Hamad, Alhazmy, Anas M., Shoomi, Mohammed A., Alghofely, Humariya, Heena, Aziza M., Mushiba, Abdulhamid, AlSaheel
Publikováno v:
Journal of clinical research in pediatric endocrinology. 14(2)
Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients wi
Autor:
Fatima Alfadli, Ghada M H Abdel-Salam, Tamer Rizk, Lamees Alhabeeb, Dorota Monies, Gamal Ahmed Hosny, Nadia Al-Hashmi, Hessa S. Alsaif, Mohamed Abouelhoda, Ghada A. Otaify, Mais Hashem, Amira Nabil, Saeed Al Tala, Hisham Alkuraya, Anas M. Alazami, Aida Alaqeel, Muneera J. Alshammari, Mahmoud R. Fassad, Muddathir H. Hamad, Majid Alfadhel, Seema Kapoor, Mohammed Zain Seidahmed, Mona Aglan, Fowzan S. Alkuraya, Nour Ewida, Mustafa A. Salih, Arif O. Khan, Samira Sogati, Niema Ibrahim, W T Keng, Afaf Alsagheir, Yasser Sabr, Samira Ismail, Ranad Shaheen, Ahlam A. Hamed, Winnie Ong Peitee, Abdulmonem Alsiddiky, Saji Alexander, Shams Anazi, Amal Alhashem, Ankur Singh, Maha S. Zaki, Firdous Abdulwahab, Alka V. Ekbote, Nada Al Tassan, Fatema Alzahrani, Saud Alsahli, Samia A. Temtamy, Jawahir Y. Mohamed, Abdullah Qasem, Eissa Faqeih, Sateesh Maddirevula, Aziza M. Mushiba, Khalda Amr, Hanan E. Shamseldin, Nisha Patel
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(12)
To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. Detailed phenotyping and next-generation sequencing (panel and exome). Our analysis revealed 22
Autor:
Marwan Nashabat, Majid Alfadhel, Maryam Alalwan, Deborah Marsden, Ali Alasmari, Marwah Albanyan, Eissa Faqeih, Wafaa Eyaid, Fuad Al Mutairi, Abdulrahman Obaid, Abdulrahman Alswaid, Aziza M. Mushiba
Publikováno v:
JIMD Reports ISBN: 9783662578797
Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular feat
Autor:
Mushiba, Aziza M., FAQEIH, EISSA, Saleh, Mohammed A., Ramzan, Khushnooda, Imtiaz, Faiqa, Al‐Owain, Mohammed, Alhashem, Amal M., Alswaid, Abdulrahman
Publikováno v:
American Journal of Medical Genetics. Part A; Aug2021, Vol. 185 Issue 8, p2455-2463, 9p