المؤلفون: Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain

المصدر: Genes; Volume 12; Issue 5; Pages: 731

مصطلحات موضوعية: MCPH, Seckel syndrome, modifier alleles, primordial dwarfism, impaired splicing, supernumerary centrosomes

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050731

الاتاحة: https://doi.org/10.3390/genes12050731

المؤلفون: Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Höhne, Wolfgang, Fatima, Ambrin, Baig, Shahid Mahmood

المصدر: Department of Biological & Biomedical Sciences

مصطلحات موضوعية: MCPH, Seckel syndrome, Impaired splicing, Modifier alleles, Primordial dwarfism, Supernumerary centrosomes, Life Sciences

وصف الملف: application/pdf

Relation: https://ecommons.aku.edu/pakistan_fhs_mc_bbs/946; https://ecommons.aku.edu/context/pakistan_fhs_mc_bbs/article/1945/viewcontent/genes_12_00731_v2.pdf

الاتاحة: https://ecommons.aku.edu/pakistan_fhs_mc_bbs/946
https://ecommons.aku.edu/context/pakistan_fhs_mc_bbs/article/1945/viewcontent/genes_12_00731_v2.pdf

المؤلفون: M. Asif, Ehtisham Ul Haq Makhdoom, Muhammad Tariq, Maria Iqbal, Muhammad Sajid Hussain, Shahid Mahmood Baig, Sheraz Jamal Khan, Birgit Budde, Ghulam Hussain, Wolfgang Höhne, Janine Altmüller, Stefan Höning, Muhammad Jameel, Ambrin Fatima, Sigrid Tinschert, Ayaz Khan, Iram Anjum, Emrah Kaygusuz, Syeda Seema Waseem, Hammad Yousaf, Peter Nürnberg, Uzma Abdullah, Saadia Maryam Saadi, Holger Thiele, Zafar Ali

المساهمون: Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid, Kaygusuz, Emrah

المصدر: Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)

مصطلحات موضوعية: impaired splicing, 0301 basic medicine, Microcephaly, QH426-470, Biology, ASPM, 03 medical and health sciences, 0302 clinical medicine, PCNT, Genetics, medicine, Missense mutation, supernumerary centrosomes, Expressivity (genetics), Genetics (clinical), MCPH, medicine.disease, Seckel syndrome, CEP63, 030104 developmental biology, modifier alleles, Technology Platforms, primordial dwarfism, Primordial dwarfism, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474865bca935a6b350b9efe1a9c23656
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf

المؤلفون: Coppieters, Frauke, De Wilde, Bram, Lefever, Steve, De Meester, Ellen, De Rocker, Nina, Van Cauwenbergh, Caroline, Pattyn, Filip, Meire, Françoise, Leroy, Bart, Hellemans, Jan, Vandesompele, Jo, De Baere, Elfride

المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600

مصطلحات موضوعية: Medicine and Health Sciences, MUTATIONS, DNA-SEQUENCE, VISUAL FUNCTION, MODIFIER ALLELES, RETINAL DYSTROPHIES, GENOTYPING MICROARRAY, GENE-THERAPY, qPCR, molecular diagnosis, massively parallel sequencing, Leber congenital amaurosis, MODEL, PLATFORMS, CAPTURE

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/2134021; http://hdl.handle.net/1854/LU-2134021; http://dx.doi.org/10.1038/gim.2011.51; https://biblio.ugent.be/publication/2134021/file/2134053

الاتاحة: https://biblio.ugent.be/publication/2134021
http://hdl.handle.net/1854/LU-2134021
https://doi.org/10.1038/gim.2011.51
https://biblio.ugent.be/publication/2134021/file/2134053