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Shahid Baig
Shahid Baig
Dean Life Sciences Health Services Academy (HSA), Ministry of Health Services, Islamabad, Pakistan
Verificeret mail på hsa.edu.pk
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Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
SM Baig, A Koschak, A Lieb, M Gebhart, C Dafinger, G Nürnberg, A Ali, ...
Nature neuroscience 14 (1), 77-84, 2011
3572011
Role of cholesterol and sphingolipids in brain development and neurological diseases
G Hussain, J Wang, A Rasul, H Anwar, A Imran, M Qasim, S Zafar, ...
Lipids in health and disease 18, 1-12, 2019
2782019
Imbalance between neutrophil elastase and its inhibitor α1-antitrypsin in obesity alters insulin sensitivity, inflammation, and energy expenditure
V Mansuy-Aubert, QL Zhou, X Xie, Z Gong, JY Huang, AR Khan, G Aubert, ...
Cell metabolism 17 (4), 534-548, 2013
2442013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ...
PloS one 8 (11), e78496, 2013
2392013
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function
MS Hussain, SM Baig, S Neumann, G Nürnberg, M Farooq, I Ahmad, ...
The American Journal of Human Genetics 90 (5), 871-878, 2012
2152012
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
CA Martin, I Ahmad, A Klingseisen, MS Hussain, LS Bicknell, A Leitch, ...
Nature genetics 46 (12), 1283-1292, 2014
1892014
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
MS Hussain, SM Baig, S Neumann, VS Peche, S Szczepanski, ...
Human molecular genetics 22 (25), 5199-5214, 2013
1442013
Molecular and population genetic analyses of β‐Thalassemia in Turkey
GO Tadmouri, Ş Tüzmen, H Özçelik, A Özer, SM Baig, EB Senga, ...
American journal of hematology 57 (3), 215-220, 1998
1381998
Gene panel testing in epileptic encephalopathies and familial epilepsies
RS Møller, LHG Larsen, KM Johannesen, I Talvik, T Talvik, U Vaher, ...
Molecular syndromology 7 (4), 210-219, 2016
1202016
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability
L Hansen, H Tawamie, Y Murakami, Y Mang, S ur Rehman, R Buchert, ...
The American Journal of Human Genetics 92 (4), 575-583, 2013
1092013
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
DA Braun, S Lovric, D Schapiro, R Schneider, J Marquez, M Asif, ...
The Journal of clinical investigation 128 (10), 4313-4328, 2018
1042018
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome
S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ...
Clinical Genetics 86 (4), 318-325, 2014
852014
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome
S Nawaz, J Klar, M Wajid, M Aslam, M Tariq, J Schuster, SM Baig, N Dahl
European journal of human genetics 17 (12), 1600-1605, 2009
802009
Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital
F Gulzar, MS Akhtar, R Sadiq, S Bashir, S Jamil, SM Baig
Cancer management and research, 1087-1096, 2019
782019
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice
J Klar, C Hisatsune, SM Baig, M Tariq, ACV Johansson, M Rasool, ...
The Journal of clinical investigation 124 (11), 4773-4780, 2014
782014
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
MA Khan, VM Rupp, M Orpinell, MS Hussain, J Altmüller, MO Steinmetz, ...
Human molecular genetics 23 (22), 5940-5949, 2014
772014
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia
AS Fröjmark, J Schuster, M Sobol, M Entesarian, MBC Kilander, ...
The American Journal of Human Genetics 88 (6), 852-860, 2011
762011
Lipids as biomarkers of brain disorders
G Hussain, H Anwar, A Rasul, A Imran, M Qasim, S Zafar, M Imran, ...
Critical reviews in food science and nutrition 60 (3), 351-374, 2020
752020
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
A Moawia, R Shaheen, S Rasool, SS Waseem, N Ewida, B Budde, ...
Annals of neurology 82 (4), 562-577, 2017
732017
Prediction of viral loads for diagnosis of Hepatitis C infection in human plasma samples using Raman spectroscopy coupled with partial least squares regression analysis
H Nawaz, N Rashid, M Saleem, M Asif Hanif, M Irfan Majeed, I Amin, ...
Journal of Raman Spectroscopy 48 (5), 697-704, 2017
722017
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Artikler 1–20