Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Uzma, Abdullah"'
Autor:
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100111- (2022)
Summary: CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene have been recently identified as a cause of Poirier-Bienve
Externí odkaz:
https://doaj.org/article/9ab8572fe2874d66a9f70e678cec119a
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50–60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reporte
Externí odkaz:
https://doaj.org/article/58714ab5a8e04004bc534f6130460116
Publikováno v:
Cells, Vol 12, Iss 4, p 642 (2023)
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus categorized into several subtypes. However, the recent bloom of disease–gene discoveries has revealed more overlaps than differences in the underlying geneti
Externí odkaz:
https://doaj.org/article/cc84afbdf2fe410497bf3348bb695e26
Autor:
Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja
Publikováno v:
Cells, Vol 11, Iss 19, p 3090 (2022)
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes;
Externí odkaz:
https://doaj.org/article/8b4eb39ce0dc404498614cfcd9839e1d
Autor:
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which mak
Externí odkaz:
https://doaj.org/article/86efdf4d011a4c569530b984fe472c83
Publikováno v:
Pakistan Armed Forces Medical Journal, Vol 68, Iss 2, Pp 339-344 (2018)
Objective: To determine the sensitivity and specificity of transabdominal ultrasonography (US) in staging of Wilms tumor, taking transabdominal contrast enhanced computed tomography (CT) of abdomen as gold standard. Study Design: Cross sectional/v
Externí odkaz:
https://doaj.org/article/33a71f677c644b5cb71889932e639fa3
Autor:
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutatio
Externí odkaz:
https://doaj.org/article/a8977bb723f9486e8d6e49022b6578a1
Autor:
Iqbal, Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1404
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::b9fc448e8d7de3122c08818d155afd96
Autor:
null Ummara Rafi, null Sohail Hameed, null Naheed Malik, null Mariam Awan, null Shahid Baig, null Uzma Abdullah
Publikováno v:
China-USA Business Review. 22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e1ab04be6a69e32354711cbd98780bb
https://doi.org/10.17265/1537-1514/2023.01.002
https://doi.org/10.17265/1537-1514/2023.01.002
Autor:
Maria Asif, Ionut Dragos Mocanu, Uzma Abdullah, Wolfgang Höhne, Janine Altmüller, Ehtisham Ul Haq Makhdoom, Holger Thiele, Shahid Mahmood Baig, Peter Nürnberg, Luitgard Graul‐Neumann, Muhammad Sajid Hussain
Publikováno v:
American Journal of Medical Genetics Part A. 188:1251-1258
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83bbcee50137063c881cc9f232999a78
https://doi.org/10.1002/ajmg.a.62610
https://doi.org/10.1002/ajmg.a.62610