31 results on '"Khan, Sher Alam"'
Search Results
2. Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability
3. A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
4. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients
5. Professional Quality of Life and Psychological Impact on Frontline Healthcare Worker during the Fourth Wave of COVID-19
6. Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families
7. Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
8. Molecular insight into CREBBP and TANGO2 variants causing intellectual disability
9. Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
10. Impact of Family Involvement on Academic Achievement at Higher Secondary Level
11. A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family
12. The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)
13. Importance of Lumbar Puncture in Late Onset Sepsis
14. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome.
15. Incidence of Several Forms of Tuberculosis (TB) and Their Bacillus Calamette Guerin (BCG) Vaccination Status among Children
16. The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family
17. Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
18. Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
19. Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family.
20. Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
21. Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.
22. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family
23. Novel sequence variants in theMKKSgene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes
24. A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
25. A novel mutation in the <italic>HPGD</italic> gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
26. Novel sequence variants in the MKKS gene cause Bardet‐Biedl syndrome with intra‐ and inter‐familial variable phenotypes.
27. The Genetics of Split-Hand/Foot Malformation (SHFM) - A Pakistani Perspective.
28. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
29. Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.
30. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
31. Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
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