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Harjeet Rai

Showing results (1-10 of 4) with videos related to

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European Journal of Human Genetics : EJHG|July 14, 2018
Before progressing from "exomes" to "genomes"… don't forget splicing variantsSamiha S Shaikh, Michael S Nahorski, Harjeet Rai, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmentiSarah Hull, Gavin Arno, Penelope Thomson, et al.
Human Mutation|June 1, 2010
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1Allan J Richards, Annie McNinch, Howard Martin, et al.
Human Mutation|June 6, 2006
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1Allan J Richards, Maureen Laidlaw, Joanne Whittaker, et al.
Pageof 1

Showing results (1-10 of 4) with videos related to

Sort By:
Pageof 1
European Journal of Human Genetics : EJHG|July 14, 2018
Before progressing from "exomes" to "genomes"… don't forget splicing variantsSamiha S Shaikh, Michael S Nahorski, Harjeet Rai, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmentiSarah Hull, Gavin Arno, Penelope Thomson, et al.
Human Mutation|June 1, 2010
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1Allan J Richards, Annie McNinch, Howard Martin, et al.
Human Mutation|June 6, 2006
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1Allan J Richards, Maureen Laidlaw, Joanne Whittaker, et al.
Pageof 1