المؤلفون: Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: Biallelic missense variants, consanguineous family, POLR3A, WES, WRS, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/521377631e9948298f3bc24bd8fb8065

المؤلفون: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

المصدر: Cells, Vol 11, Iss 19, p 3154 (2022)

مصطلحات موضوعية: RTN4IP1, founder variant, missense, age of variant, encephalopathy, optic atrophy, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/19/3154; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/fd0e522686944e1699b9a065cd1564db

المؤلفون: Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A. AlHarbi, Ana C. González-Álvarez, Stefan T. Arold, Namik Kaya

المصدر: Genes; Volume 13; Issue 12; Pages: 2252

مصطلحات موضوعية: novel deleterious variant, homozygous, loss of function, DNM1, epileptic encephalopathy, intellectual disability, developmental delay, whole-exome sequencing (WES), Sanger sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13122252

الاتاحة: https://doi.org/10.3390/genes13122252