A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report

por Abu-Amero, Khaled K, Al-Dhalaan, Hesham, Bohlega, Saeed, Hellani, Ali, Taylor, Robert W
Publicado 2009

Autism and ADHD in the Era of Big Data; An Overview of Digital Resources for Patient, Genetic and Clinical Trials Information

por Abomelha, Faris M., AlDhalaan, Hesham, Ghaziuddin, Mohammad, Al-Tassan, Nada A., Al-Mubarak, Bashayer R.
Publicado 2022

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

por AlQudairy, Hanan, AlDhalaan, Hesham, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, AlBakheet, Albandary, Alomrani, Adeeb, Alharbi, Omar A., Tous, Ehab, AlSayed, Moeen, AlZaidan, Hamad, AlRasheed, Maha M., AlOdaib, Ali, Kaya, Namik
Publicado 2023

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

por Al-Mubarak, Bashayer, Abouelhoda, Mohamed, Omar, Aisha, AlDhalaan, Hesham, Aldosari, Mohammed, Nester, Michael, Alshamrani, Hussain. A., El-Kalioby, Mohamed, Goljan, Ewa, Albar, Renad, Subhani, Shazia, Tahir, Asma, Asfahani, Sultana, Eskandrani, Alaa, Almusaiab, Ahmed, Magrashi, Amna, Shinwari, Jameela, Monies, Dorota, Al Tassan, Nada
Publicado 2017

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

por Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik
Publicado 2021