Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital

por Bashiri, Fahad A., AlSheikh, Rawan, Hamad, Muddathir H., Alsheikh, Hamad, Alsheikh, Rana Abdullah, Kentab, Amal, AlTheeb, Najd, Alghamdi, Malak
Publicado 2023

Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome

por Ali Alghamdi, Malak, Benabdelkamel, Hicham, Masood, Afshan, Saheb Sharif-Askari, Narjes, Hachim, Mahmood Y., Alsheikh, Hamad, Hamad, Muddathir H., Salih, Mustafa A., Bashiri, Fahad A., Alhasan, Khalid, Kashour, Tarek, Guatibonza Moreno, Pilar, Schröder, Sabine, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Alkhalidi, Hisham, Jamjoom, Dima Z., Alorainy, Ibrahim A., Alfadda, Assim A., Halwani, Rabih
Publicado 2022