Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits
Al‐Nabhani, Maryam, Al‐Rashdi, Samiya, Al‐Murshedi, Fathiya, Al‐Kindi, Adila, Al‐Thihli, Khalid, Al‐Saegh, Abeer, Al‐Futaisi, Amna, Al‐Mamari, Watfa, Zadjali, Fahad, Al‐Maawali, Almundher
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher
Published in Scientific reports (07.11.2022)
Published in Scientific reports (07.11.2022)
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Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation
Otaify, Ghada A., Al Baluki, Wafa, Al-Rashdi, Samiya, Al-Maawali, Almundher
Published in European journal of medical genetics (01.12.2022)
Published in European journal of medical genetics (01.12.2022)
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Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder
Mohammed, Mohammed, Al-Hashmi, Nadia, Al-Rashdi, Samiya, Al-Sukaiti, Nashat, Al-Adawi, Kawther, Al-Riyami, Marwa, Al-Maawali, Almundher
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
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