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Showing results (111-120 of 118) with videos related to

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European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
Human Molecular Genetics|January 3, 2018
CDC14A phosphatase is essential for hearing and male fertility in mouse and humanAyesha Imtiaz, Inna A Belyantseva, Alisha J Beirl, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
American Journal of Human Genetics|July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndromeThomas B Smith, Rabia Faridi, Leigh A M Demain, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
Annals of the Rheumatic Diseases|October 29, 2025
GZMK<sup>+</sup>CD8<sup>+</sup> T cells target a specific acinar cell type in Sjögren's diseaseThomas J F Pranzatelli, Paola Perez, Anson Ku, et al.
Research Square|January 10, 2024
GZMK+CD8+ T cells Target A Specific Acinar Cell Type in Sjögren's DiseaseThomas J F Pranzatelli, Paola Perez, Anson Ku, et al.
Pageof 12

Showing results (111-120 of 118) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 118 results.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
Human Molecular Genetics|January 3, 2018
CDC14A phosphatase is essential for hearing and male fertility in mouse and humanAyesha Imtiaz, Inna A Belyantseva, Alisha J Beirl, et al.
American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.
American Journal of Human Genetics|July 2, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndromeThomas B Smith, Rabia Faridi, Leigh A M Demain, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
Annals of the Rheumatic Diseases|October 29, 2025
GZMK<sup>+</sup>CD8<sup>+</sup> T cells target a specific acinar cell type in Sjögren's diseaseThomas J F Pranzatelli, Paola Perez, Anson Ku, et al.
Research Square|January 10, 2024
GZMK+CD8+ T cells Target A Specific Acinar Cell Type in Sjögren's DiseaseThomas J F Pranzatelli, Paola Perez, Anson Ku, et al.
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