Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ghada M.H. Abdel-Salam"'
Autor:
Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Publikováno v:
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mappi
Externí odkaz:
https://doaj.org/article/50640b009bf24893bb6eadc42e852726
Autor:
Rania R. Ahmed, Amina M. Medhat, Germine M. Hamdy, Laila K.E. Effat, Mohamed S. Abdel-Hamid, Ghada M.H. Abdel-Salam
Publikováno v:
Molecular Syndromology. :1-10
Introduction: The underlying molecular defects of congenital hydrocephalus are heterogeneous and many isolated forms of hydrocephalus remain unsolved at the molecular level. Congenital hydrocephalus in males associated with agenesis of the corpus cal
Autor:
Ghada M.H. Abdel-Salam, Hanan H. Afifi, Sahar N. Saleem, Mohamed I. Gadelhak, Manar A. El-Serafy, Inas S.M. Sayed, Mohamed S. Abdel-Hamid
Publikováno v:
Molecular Syndromology. 13:389-396
Introduction: Pathogenic variants in the PIEZO family member 2 (PIEZO2) gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5). Out of these, MWS has a recognizable phenotype that can be dis
Autor:
Erik Rosenhahn, Thomas J. O’Brien, Maha S. Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S. Alkuraya, Mais O. Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S. Alamri, Ayat H. Al Safar, Dalal K. Bubshait, Nada F. Alahmady, Joseph G. Gleeson, Mohamed S. Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P. Correia, Anna Wredenberg, Shahryar Alavi, Seyed M. Seyedhassani, Mahya Ebrahimi Nasab, Haytham Hussien, Tarek E.I. Omar, Ines Harzallah, Renaud Touraine, Homa Tajsharghi, Heba Morsy, Henry Houlden, Mohammad Shahrooei, Maryam Ghavideldarestani, Ghada M.H. Abdel-Salam, Annalaura Torella, Mariateresa Zanobio, Gaetano Terrone, Nicola Brunetti-Pierri, Abdolmajid Omrani, Julia Hentschel, Johannes R. Lemke, Heinrich Sticht, Rami Abou Jamra, Andre E.X. Brown, Reza Maroofian, Konrad Platzer
Publikováno v:
American Journal of Human Genetics
PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a2077c97370ff1a1689ee1973c2d321
https://hdl.handle.net/11591/482556
https://hdl.handle.net/11591/482556
Autor:
Maha M. Eid, Ola M. Eid, Sawsan Abdel-Hadi, Nehal Hassib, Abdelrahman Madian, Hanan H. Afifi, Ghada M.H. Abdel-Salam
Publikováno v:
J Pediatr Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f205c80d7fb66295e2a33612cf2c616e
https://europepmc.org/articles/PMC9832353/
https://europepmc.org/articles/PMC9832353/