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Items: 11

1.

Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.

Somashekar PH, Upadhyai P, Shukla A, Girisha KM.

Gene. 2020 Mar 1;729:144229. doi: 10.1016/j.gene.2019.144229. Epub 2019 Nov 7.

PMID:
31706999
2.

Investigating the West Eurasian ancestry of Pakistani Hazaras.

Das R, Upadhyai P.

J Genet. 2019 Jun;98(2). pii: 43.

3.

Application of the geographic population structure (GPS) algorithm for biogeographical analyses of wild and captive gorillas.

Das R, Upadhyai P.

BMC Bioinformatics. 2019 Feb 5;20(Suppl 1):35. doi: 10.1186/s12859-018-2568-5.

4.

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Uttarilli A, Shah H, Bhavani GS, Upadhyai P, Shukla A, Girisha KM.

Bone. 2019 Mar;120:204-211. doi: 10.1016/j.bone.2018.10.026. Epub 2018 Nov 6.

PMID:
30408610
6.

An Ancestry Informative Marker Set Which Recapitulates the Known Fine Structure of Populations in South Asia.

Das R, Upadhyai P.

Genome Biol Evol. 2018 Sep 1;10(9):2408-2416. doi: 10.1093/gbe/evy182.

8.

Unraveling the Population History of Indian Siddis.

Das R, Upadhyai P.

Genome Biol Evol. 2017 Jun 1;9(6):1385-1392. doi: 10.1093/gbe/evx095.

9.

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM.

J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.

10.

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.

Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S, Girisha KM.

Eur J Med Genet. 2017 Feb;60(2):118-123. doi: 10.1016/j.ejmg.2016.11.006. Epub 2016 Nov 29.

11.

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