E-LIB Suche - Ergebnisse für: Booth, Kevin T.A.

1

Biochemical and molecular confirmation of alkaptonuria in a..:

Fayette, Melissa A. ; Booth, Kevin T.A. ; Lynnes, Ty C....
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107628 , 2023

Link: https://doi.org/10.1016/..

2

Biallelic Loss-of-Function Variants in BICD1 Are Associated..:

Hirsch, Yoel ; Chung, Wendy K. ; Novoselov, Sergey...
International Journal of Molecular Sciences. 24 (2023) 10 - p. 8897 , 2023

Link: https://doi.org/10.3390/..

3

Mini-PCDH15 gene therapy rescues hearing in a mouse model o..:

Ivanchenko, Maryna V. ; Hathaway, Daniel M. ; Klein, Alex J....
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

4

Expanding the phenotypic spectrum of COLEC10‐Related 3MC sy..:

Rabin, Rachel ; Hirsch, Yoel ; Chung, Wendy K....
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3110-3117 , 2022

Link: https://doi.org/10.1002/..

5

Editorial to the Special Issue on "The molecular genetics o..:

Booth, Kevin T. ; Shearer, A. Eliot
Human Genetics. , 2022

Link: https://doi.org/10.1007/..

6

DVPred: a disease-specific prediction tool for variant path..:

Bu, Fengxiao ; Zhong, Mingjun ; Chen, Qinyi...
Human Genetics. , 2022

Link: https://doi.org/10.1007/..

7

Genetic etiology of hearing loss in Iran:

Babanejad, Mojgan ; Beheshtian, Maryam ; Jamshidi, Fereshteh...
Human Genetics. , 2022

Link: https://doi.org/10.1007/..

8

Disease-specific ACMG/AMP guidelines improve sequence varia..:

Patel, Mayher J. ; DiStefano, Marina T. ; Oza, Andrea M....
Genetics in Medicine. 23 (2021) 11 - p. 2208-2212 , 2021

Link: https://doi.org/10.1038/..

9

Exome sequencing utility in defining the genetic landscape ..:

Mohseni, Marzieh ; Babanejad, Mojgan ; Booth, Kevin T....
Clinical Genetics. 100 (2021) 1 - p. 59-78 , 2021

Link: https://doi.org/10.1111/..

10

A biallelic variant in CLRN2 causes non-syndromic hearing l..:

Vona, Barbara ; Mazaheri, Neda ; Lin, Sheng-Jia...
Human Genetics. 140 (2021) 6 - p. 915-931 , 2021

Link: https://doi.org/10.1007/..

11

A synonymous variant in MYO15A enriched in the Ashkenazi Je..:

Hirsch, Yoel ; Tangshewinsirikul, Chayada ; Booth, Kevin T....
European Journal of Human Genetics. 29 (2021) 6 - p. 988-997 , 2021

Link: https://doi.org/10.1038/..

12

Identification of Novel and Recurrent Variants in MYO15A in..:

Booth, Kevin T. ; Hirsch, Yoel ; Vardaro, Anna C....
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

When transcripts matter: delineating between non-syndromic ..:

Mohseni, Marzieh ; Akbari, Mojdeh ; Booth, Kevin T....
Journal of Human Genetics. 65 (2020) 7 - p. 609-617 , 2020

Link: https://doi.org/10.1038/..

14

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mu..:

Booth, Kevin T. ; Azaiez, Hela ; Smith, Richard J. H.
International Journal of Molecular Sciences. 21 (2020) 11 - p. 3951 , 2020

Link: https://doi.org/10.3390/..

15

Insights into the pathophysiology of DFNA10 hearing loss as..:

Morín, Matias ; Borreguero, Lucía ; Booth, Kevin T...
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..