Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Basma Abadel"'
Autor:
Majid Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair, Zuhair Rahbeeni, Eissa Faqeih, Mohammed Almannai, Ali Alasmari, Mohammed Saleh, Wafaa Eyaid, Ahmed Alfares, Fuad Al Mutairi
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural
Externí odkaz:
https://doaj.org/article/1a76d79b4d1d4643b0a6276b01de203b
Autor:
Mustafa A. Salih, Basma Abadel, Elliott H. Sherr, Stefan T. Arold, Mohammed Al-Owain, Amal Alhashem, Christopher A. Walsh, Fowzan S. Alkuraya, Jennifer N. Partlow, Ghada A. Otaify, Samira Sogati, Ali H Alwadei, Mohammed Zain Seidahmed, Saud Alsahli, Fahad A. Bashiri, Maha Tulbah, Nour Ewida, Samia A. Temtamy, Fahad Al-Hazzani, Brieana Fregeau, Eman Alobeid, Mona Aglan, Maha S. Zaki, Saeed Al Tala, Amal Y. Kentab, Muddathir H Hamad, Tarfa Al-Sheddi, Katta M. Girisha, Serdar Şahintürk, Niema Ibrahim, Zainab Al-Humaidi, Ghada M H Abdel-Salam, Salwa M. Alkhalifi, Mohamed Abouelhoda, Mais Hashem, Rana Alomar, Saad AlShahwan, Firdous Abdulwahab, Ranad Shaheen, Muna Al Saffar, Eissa Faqeih, Sateesh Maddirevula, Anas M. Alazami, Brahim Tabarki, Nisha Patel, Ameen Softah, Afaque Ahmad Imtiyaz Momin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Çalışmada 47 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to p