دنبال کردن
Sulman Basit
Sulman Basit
Assistant Professor at the Department of Biochemistry and Molecular Medicine, College of Medicine
ایمیل تأیید شده در taibahu.edu.sa
عنوان
نقل شده توسط
نقل شده توسط
سال
Genetic basis of polycystic ovary syndrome (PCOS): current perspectives‏
MJ Khan, A Ullah, S Basit‏
The application of clinical genetics, 249-260, 2019‏
4002019
Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48‏
S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ...‏
Nature genetics 44 (11), 1265-1271, 2012‏
2692012
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability‏
S AlAsiri, S Basit, MA Wood-Trageser, SA Yatsenko, EP Jeffries, U Surti, ...‏
The Journal of clinical investigation 125 (1), 258-262, 2015‏
2392015
Vitamin D in health and disease: a literature review‏
S Basit‏
British journal of biomedical science 70 (4), 161-172, 2013‏
2332013
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42‏
G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ...‏
The American Journal of Human Genetics 88 (2), 127-137, 2011‏
1302011
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89‏
RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ...‏
The American Journal of Human Genetics 93 (1), 132-140, 2013‏
1282013
First macrocyclic 3rd-generation ALK inhibitor for treatment of ALK/ROS1 cancer: Clinical and designing strategy update of lorlatinib‏
S Basit, Z Ashraf, K Lee, M Latif‏
European Journal of Medicinal Chemistry 134, 348-356, 2017‏
1152017
Genetics of clubfoot; recent progress and future perspectives‏
S Basit, KI Khoshhal‏
European Journal of Medical Genetics 61 (2), 107-113, 2018‏
1032018
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles‏
M Ayub, S Basit, M Jelani, FU Rehman, M Iqbal, M Yasinzai, W Ahmad‏
The American Journal of Human Genetics 85 (4), 515-520, 2009‏
982009
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment‏
M Schraders, K Lee, J Oostrik, PLM Huygen, G Ali, LH Hoefsloot, ...‏
The American Journal of Human Genetics 86 (2), 138-147, 2010‏
772010
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly‏
S Basit, KM Al-Harbi, SAM Alhijji, AM Albalawi, E Alharby, A Eldardear, ...‏
Human genetics 135, 1199-1207, 2016‏
652016
A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation‏
S Khan, S Basit, FK Zimri, N Ali, G Ali, M Ansar, W Ahmad‏
Clinical genetics 82 (1), 48-55, 2012‏
582012
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families‏
N Wasif, SKH Naqvi, S Basit, N Ali, M Ansar, W Ahmad‏
Human genetics 129, 419-424, 2011‏
482011
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly‏
R Kousar, MJ Hassan, B Khan, S Basit, S Mahmood, A Mir, W Ahmad, ...‏
BMC neurology 11, 1-6, 2011‏
462011
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani …‏
S Basit, SKH Naqvi, N Wasif, G Ali, M Ansar, W Ahmad‏
BMC medical genetics 9, 1-6, 2008‏
442008
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip‏
S Basit, AM Albalawi, E Alharby, KI Khoshhal‏
BMC Medical Genetics 18, 1-10, 2017‏
422017
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families‏
M Umair, A Hassan, A Jan, F Ahmad, M Imran, MI Samman, S Basit, ...‏
Journal of human genetics 61 (3), 207-213, 2016‏
392016
Pakistan genetic mutation database (PGMD); a centralized Pakistani mutome data source‏
I Qasim, B Ahmad, MA Khan, N Khan, N Muhammad, S Basit, S Khan‏
European journal of medical genetics 61 (4), 204-208, 2018‏
352018
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13. 3–q21. 2 and screening of the candidate genes‏
S Basit, S Kamran-ul-Hassan Naqvi, M Ansar, W Ahmad‏
Human genetics 131, 415-422, 2012‏
342012
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family‏
MJ Khan, N Pollock, H Jiang, C Castro, R Nazli, J Ahmed, S Basit, ...‏
Scientific Reports 8 (1), 16280, 2018‏
332018
سیستم در حال حاضر قادر به انجام عملکرد نیست. بعداً دوباره امتحان کنید.
مقاله‌ها 1–20