المؤلفون: Saima, Khan, Amjad^{Aff2, Aff3, Aff4, IDs10048024007597_cor2}, Ali, Sajid, Jiang, Jiuhong^{Aff5, Aff6}, Miao, Zhichao^{Aff7, Aff8}, Kamil, Atif^{Aff1, Aff10}, Khan, Shahid Niaz, Arold, Stefan T.

المصدر: Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.. 25(3):179-191

المؤلفون: Shin, Taehwan, Song, Janet HT, Kosicki, Michael, Kenny, Connor, Beck, Samantha G, Kelley, Lily, Qian, Xuyu, Bonacina, Julieta, Papandile, Frances, Antony, Irene, Gonzalez, Dilenny, Scotellaro, Julia, Bushinsky, Evan M, Andersen, Rebecca E, Maury, Eduardo, Pennacchio, Len A, Doan, Ryan N, Walsh, Christopher A

مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Human Genome, Autism, Clinical Research, Underpinning research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Mental health, Human Accelerated Regions, IL1RAPL1, SIM1, Vista Enhancers, autism spectrum disorder, caMPRA, consanguineous families, conserved neural enhancers, noncoding regions, recessive variants

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4n55d0g9
https://escholarship.org/content/qt4n55d0g9/qt4n55d0g9.pdf

المؤلفون: Muhammad Ikram Ullah, Zaira Rehman, Rubina Dad, Abdullah Alsrhani, Muhammad Shakil, Heba Bassiony Ghanem, Ayman Ali Mohammed Alameen, Mohamed Farouk Elsadek, Lienda Bashier Eltayeb, Sajjad Ullah, Muhammad Atif

المصدر: Life, Vol 13, Iss 8, p 1788 (2023)

مصطلحات موضوعية: congenital cataract, FYCO1, mutations, consanguineous families, in silico analysis, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/13/8/1788; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/28a97d32d3bf434c8e8af690b9c368c1

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المؤلفون: Sairah Yousaf, Nabeela Tariq, Zureesha Sajid, Shakeel A. Sheikh, Tasleem Kausar, Yar M. Waryah, Rehan S. Shaikh, Ali M. Waryah, Saumil Sethna, Saima Riazuddin, Zubair M. Ahmed

المصدر: Genes, Vol 13, Iss 4, p 617 (2022)

مصطلحات موضوعية: achromatopsia, CNGA3, exome sequencing, missense variants, consanguineous families, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/13/4/617; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1d32e409c8cf4366956049a5e130a0be

المؤلفون: Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Autosomal recessive anophthalmia and microphthalmia, ALDH1A3 gene, Mutations, Variants, Exome sequencing, Consanguineous families, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0678-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/603d71cf367240d19f8d75f82bd166e2

المؤلفون: Liwei Sun, Amjad Khan, Han Zhang, Shirui Han, Xiaerbati Habulieti, Rongrong Wang, Xue Zhang

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: in-frame deletion, Pakistani consanguineous families, intellectual disability, founder effect, MBOAT7 gene, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.585053/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/18451737909e40809e6bb227ba29fd96

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