E-LIB Suche - Ergebnisse für: Dyment, David A

1

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; O'Leary, Melanie...
Annals of Clinical and Translational Neurology. 11 (2024) 3 - p. 629-640 , 2024

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

2

P195: Investigating the contribution of an intronic expansi..:

Cuillerier, Alexanne ; Mackay, Layla ; Wall, Erika...
Genetics in Medicine Open. 2 (2024) - p. 101092 , 2024

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

3

Evaluation of the diagnostic accuracy of exome sequencing a..:

Hartley, Taila ; Marshall, Deborah ; Acker, Meryl...
Genetics in Medicine. 26 (2024) 2 - p. 101012 , 2024

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

4

Cover Image, Volume 58, Number 7, July 2023:

Hunter‐Schouela, Julia ; Geraghty, Michael T. ; Hegele, Robert A....
Pediatric Pulmonology. 58 (2023) 7 - p. , 2023

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

5

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics. 60 (2023) 12 - p. 1224-1234 , 2023

Link: https://doi.org/10.1136/..

6

Missense variant in SRCAP with distinct DNA methylation sig..:

White‐Brown, Alexandre ; Choufani, Sanaa ; Weksberg, Rosanna..
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2640-2646 , 2023

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

7

Gain-of-function variants in the ion channel gene TRPM3 und..:

Van Hoeymissen, Evelien ; Burglen, Lydie ; Qebibo, Leila...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

8

Integrated omics analyses clarifies ATRX copy number varian..:

Marshall, Aren E. ; Liang, Yijing ; Couse, Madeline...
Journal of Human Genetics. 69 (2023) 2 - p. 101-105 , 2023

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

9

First reports of primary ciliary dyskinesia caused by a sha..:

Hunter‐Schouela, Julia ; Geraghty, Michael T. ; Hegele, Robert A....
Pediatric Pulmonology. 58 (2023) 7 - p. 1942-1949 , 2023

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

10

Outcome of over 1500 matches through the Matchmaker Exchang..:

Osmond, Matthew ; Hartley, Taila ; Dyment, David A....
Genetics in Medicine. 24 (2022) 1 - p. 100-108 , 2022

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

11

A 79‐kb paternally inherited 7q32.2 microdeletion involving..:

Vincent, Krista Marie ; Stavropoulos, Dimitri J. ; Beaulieu‐Bergeron, Melanie...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2421-2428 , 2022

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

12

Care4Rare Canada: Outcomes from a decade of network science..:

Boycott, Kym M. ; Hartley, Taila ; Kernohan, Kristin D....
The American Journal of Human Genetics. 109 (2022) 11 - p. 1947-1959 , 2022

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

13

A De Novo Missense Variant in TUBG2 in a Child with Global ..:

Thulasirajah, Salini ; Wang, Xueqi ; Sell, Erick...
Genes. 14 (2022) 1 - p. 108 , 2022

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

14

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022

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

15

Genetically unresolved case of Rauch-Steindl syndrome diagn..:

McConkey, Haley ; White-Brown, Alexandre ; Kerkhof, Jennifer..
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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