المؤلفون: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif

المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test

المؤلفون: Hamed Nawaz, Mujahid, Sher Alam Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamatullah Khan, Nazif Muhammad, Amjad Khan, Sohail Aziz Paracha, Qamre Alam, Mohammad Azhar Kamal, Misbahuddin M. Rafeeq, Noor Muhammad, Fayaz Ul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, Muhammad Umair

المصدر: Genes, Vol 14, Iss 5, p 1113 (2023)

مصطلحات موضوعية: ciliopathy, Bardet–Biedl syndrome, IFT27, BBIP1, WDPCP, LZTFL1, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/5/1113Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/7f969be289ef4ebcb4beb7908051ce4cTest

المؤلفون: Julia Doll, Barbara Vona, Linda Schnapp, Franz Rüschendorf, Imran Khan, Saadullah Khan, Noor Muhammad, Sher Alam Khan, Hamed Nawaz, Ajmal Khan, Naseer Ahmad, Susanne M. Kolb, Laura Kühlewein, Jonathan D. J. Labonne, Lawrence C. Layman, Michaela A. H. Hofrichter, Tabea Röder, Marcus Dittrich, Tobias Müller, Tyler D. Graves, Il-Keun Kong, Indrajit Nanda, Hyung-Goo Kim, Thomas Haaf

المصدر: Genes, Vol 11, Iss 11, p 1329 (2020)

مصطلحات موضوعية: genetic diagnosis, consanguinity, genome-wide linkage analysis, hearing loss, Pakistan, exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/11/11/1329Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/9cd675254a654e249683b54bf3e82084Test

المؤلفون: Sher Alam Khan, Marcus Dittrich, Tobias Müller, Hamed Nawaz, Julia Doll, Imran Khan, Lawrence C. Layman, Laura Kühlewein, Naseer Ahmad, Susanne M. Kolb, Noor Muhammad, Hyung-Goo Kim, Il-Keun Kong, Jonathan D J Labonne, Ajmal Khan, Franz Rüschendorf, Tabea Röder, Saadullah Khan, Indrajit Nanda, Barbara Vona, Linda Schnapp, Thomas Haaf, Michaela A.H. Hofrichter, Tyler D. Graves

المصدر: Genes
Volume 11
Issue 11
Genes, Vol 11, Iss 1329, p 1329 (2020)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MYO15A, lcsh:QH426-470, Adolescent, Population, Genes, Recessive, Consanguinity, Deafness, 030105 genetics & heredity, Biology, Compound heterozygosity, Article, Frameshift mutation, Genetic Heterogeneity, genetic diagnosis, 03 medical and health sciences, Gene mapping, Exome Sequencing, Ethnicity, Genetics, otorhinolaryngologic diseases, Humans, Family, Genetic Predisposition to Disease, Pakistan, ddc:610, Child, Hearing Loss, education, Genetics (clinical), Exome sequencing, Aged, education.field_of_study, Genetic heterogeneity, Homozygote, Middle Aged, Pedigree, lcsh:Genetics, 030104 developmental biology, Cardiovascular and Metabolic Diseases, Mutation, Female, genome-wide linkage analysis, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0eab6ce593711c04f4e2bc4a83a9040Test
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-219293Test

المؤلفون: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif

المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test; https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test

الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test