E-LIB Suche - Ergebnisse für: Lamont, Ryan E

1

Hnrnpul1 controls transcription, splicing, and modulates sk..:

Blackwell, Danielle L ; Fraser, Sherri D ; Caluseriu, Oana...
G3 Genes|Genomes|Genetics. 12 (2022) 5 - p. , 2022

2

The Alberta Newborn Screening Approach for Sickle Cell Dise..:

Zhou, Janet R. ; Ridsdale, Ross ; MacNeil, Lauren...
International Journal of Neonatal Screening. 7 (2021) 4 - p. 78 , 2021

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

3

De novo variants in MPP5 cause global developmental delay a..:

Sterling, Noelle ; Duncan, Anna R ; Park, Raehee...
Human Molecular Genetics. 29 (2020) 20 - p. 3388-3401 , 2020

Link: https://doi.org/10.1093/..

4

PISDis a mitochondrial disease gene causing skeletal dyspla..:

Zhao, Tian ; Goedhart, Caitlin M ; Sam, Pingdewinde N...
Life Science Alliance. 2 (2019) 2 - p. e201900353 , 2019

Link: https://doi.org/10.26508..

5

Biallelic CACNA2D2 variants in epileptic encephalopathy and..:

Punetha, Jaya ; Karaca, Ender ; Gezdirici, Alper...
Annals of Clinical and Translational Neurology. 6 (2019) 8 - p. 1395-1406 , 2019

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

6

Biallelic sequence variants in INTS1 in patients with devel..:

Care 4 Rare Canada Consortium ; Krall, Max ; Htun, Stephanie...
European Journal of Human Genetics. 27 (2019) 4 - p. 582-593 , 2019

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

7

Biallelic loss of function variants in COASY cause prenatal..:

van Dijk, Tessa ; Ferdinandusse, Sacha ; Ruiter, Jos P. N....
European Journal of Human Genetics. 26 (2018) 12 - p. 1752-1758 , 2018

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

8

Is PNPT1‐related hearing loss ever non‐syndromic? Whole exo..:

Eaton, Alison ; Bernier, Francois P. ; Goedhart, Caitlin...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2487-2493 , 2018

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

9

Data sharing as a national quality improvement program: rep..:

Lebo, Matthew S. ; Zakoor, Kathleen-Rose ; Chun, Kathy...
Genetics in Medicine. 20 (2018) 3 - p. 294-302 , 2018

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

10

Response to correspondence of NDUFS4‐related Leigh syndrome..:

Lamont, Ryan E. ; Beaulieu, Chandree L. ; Bernier, Francois P....
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1452-1452 , 2017

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

11

Two De Novo Mutations in an Autistic Child Who Had Previous..:

Sajid, Umair ; Argiropoulos, Bob ; Wei, Xing-Chang...
Canadian Journal of Cardiology. 33 (2017) 2 - p. 292.e5-292.e7 , 2017

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

12

The LIM-homeodomain transcription factor Islet2a promotes a..:

Lamont, Ryan E. ; Wu, Chang.-Yi. ; Ryu, Jae.-Ryeon....
Developmental Biology. 414 (2016) 2 - p. 181-192 , 2016

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

13

A novel NDUFS4 frameshift mutation causes Leigh disease in ..:

Lamont, Ryan E. ; Beaulieu, Chandree L. ; Bernier, Francois P....
American Journal of Medical Genetics Part A. 173 (2016) 3 - p. 596-600 , 2016

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

14

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cel..:

Gordon, Paul M. K. ; Khan, Aneal ; Sajid, Umair...
Frontiers in Cardiovascular Medicine. 3 (2016) - p. , 2016

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

15

Expansion of phenotype and genotypic data in CRB2-related s..:

Lamont, Ryan E ; Tan, Wen-Hann ; Innes, A Micheil...
European Journal of Human Genetics. 24 (2016) 10 - p. 1436-1444 , 2016

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