The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate

por AlAnazi, AlNashmi, Epaud, Ralph, Heena, Humariya, de becdelievre, Alix, Miqdad, Abeer Mohammad, Fanen, Pascale
Publicado 2017

GABA transaminase deficiency. Case report and literature review

por Oshi, Amira, Alfaifi, Abdullah, Seidahmed, Mohammed Z., Al Hussein, Khalid, Miqdad, Abeer, Samadi, Abdelmohsin, Abdelbasit, Omar
Publicado 2021

Sirenomelia and severe caudal regression syndrome

por Seidahmed, Mohammed Z., Abdelbasit, Omer B., Alhussein, Khalid A., Miqdad, Abeer M., Khalil, Mohammed I., Salih, Mustafa A.
Publicado 2014

Epidemiology of neural tube defects

por Seidahmed, Mohammed Z., Abdelbasit, Omar B., Shaheed, Meeralebbae M., Alhussein, Khalid A., Miqdad, Abeer M., Khalil, Mohamed I., Al-Enazy, Naif M., Salih, Mustafa A.
Publicado 2014

Genetic, chromosomal, and syndromic causes of neural tube defects

por Seidahmed, Mohammed Z., Abdelbasit, Omer B., Shaheed, Meeralebbae M., Alhussein, Khalid A., Miqdad, Abeer M., Samadi, Abdulmohsen S., Khalil, Mohammed I., Al-Mardawi, Elham, Salih, Mustafa A.
Publicado 2014

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

por Seidahmed, Mohammed Zein, Salih, Mustafa A, Abdulbasit, Omer B, Shaheed, Meeralebbae, Al Hussein, Khalid, Miqdad, Abeer M, Al Rasheed, Abdullah K, Alazami, Anas M, Alorainy, Ibrahim A, Alkuraya, Fowzan S
Publicado 2012

Bronchiolitis in children: The Saudi initiative of bronchiolitis diagnosis, management, and prevention (SIBRO)

por Alharbi, Adel S., Alqwaiee, Mansour, Al-Hindi, Mohammed Y, Mosalli, Rafat, Al-Shamrani, Abdullah, Alharbi, Saleh, Yousef, Abdullah, Al Aidaroos, Amal, Alahmadi, Turki, Alshammary, Aisha, Miqdad, Abeer, Said, Yazan, Alnemri, Abdulrahman
Publicado 2018

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

por Seidahmed, Mohammed Zain, Salih, Mustafa A., Abdulbasit, Omer B., Samadi, Abdulmohsen, Al Hussien, Khalid, Miqdad, Abeer M., Biary, Maha S., Alazami, Anas M., Alorainy, Ibrahim A., Kabiraj, Mohammad M., Shaheen, Ranad, Alkuraya, Fowzan S.
Publicado 2016