E-LIB Suche - Ergebnisse für: Prescott, Katrina

1

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine. 25 (2023) 8 - p. 100863 , 2023

2

The SHDRA syndrome-associated geneTMEM260encodes a protein-..:

Larsen, Ida Signe Bohse ; Povolo, Lorenzo ; Zhou, Luping...
Proceedings of the National Academy of Sciences. 120 (2023) 21 - p. , 2023

Link: https://doi.org/10.1073/..

3

Exome sequencing efficacy and phenotypic expansions involvi..:

Sy, Mary R. ; Chauhan, Jaynee ; Prescott, Katrina...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3492-3504 , 2022

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

4

De novo variants in FRMD5 are associated with developmental..:

Lu, Shenzhao ; Ma, Mengqi ; Mao, Xiao...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1932-1943 , 2022

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

5

Working From Home During the COVID-19 Pandemic: The Associa..:

Zhang, Wei ; Sun, Huiying ; Gelfand, Aaron...
Journal of Occupational & Environmental Medicine. 64 (2022) 11 - p. e677-e684 , 2022

Link: https://doi.org/10.1097/..

6

Expanding the genotypic spectrum of TXNL4A variants in Burn..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Thomas, Huw B....
Clinical Genetics. 101 (2021) 2 - p. 255-259 , 2021

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

7

Further delineation of the clinical spectrum of White–Sutto..:

Murch, Oliver ; Jain, Vani ; Benneche, Andreas...
European Journal of Human Genetics. 30 (2021) 1 - p. 95-100 , 2021

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

8

Valuation of Lost Productivity in Caregivers: A Validation ..:

Gelfand, Aaron ; Sou, Julie ; Sawatzky, Rick...
Frontiers in Psychology. 12 (2021) - p. , 2021

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

9

Mosaicism in ASXL3-related syndrome: Description of five pa..:

Schirwani, Schaida ; Hauser, Natalie ; Platt, Anna...
European Journal of Medical Genetics. 63 (2020) 6 - p. 103925 , 2020

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

10

Contribution of retrotransposition to developmental disorde..:

Gardner, Eugene J. ; Prigmore, Elena ; Gallone, Giuseppe...
Nature Communications. 10 (2019) 1 - p. , 2019

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

11

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, Jenny ; McMullan, Dominic J ; Eberhardt, Ruth Y...
The Lancet. 393 (2019) 10173 - p. 747-757 , 2019

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

12

A homozygous STIM1 mutation impairs store-operated calcium ..:

Parry, David A. ; Holmes, Tim D. ; Gamper, Nikita...
Journal of Allergy and Clinical Immunology. 137 (2016) 3 - p. 955-957.e8 , 2016

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

13

Mutations in NONO lead to syndromic intellectual disability..:

The DDD Study ; Mircsof, Dennis ; Langouët, Maéva...
Nature Neuroscience. 18 (2015) 12 - p. 1731-1736 , 2015

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

14

Identification of the First ATRIP–Deficient Patient and Nov..:

Ogi, Tomoo ; Walker, Sarah ; Stiff, Tom...
PLoS Genetics. 8 (2012) 11 - p. e1002945 , 2012

Link: https://doi.org/10.1371/..

15

Comprehensive Clinical and Molecular Analysis of 12 Familie..:

Callewaert, Bert ; Su, Chi-Ting ; Van Damme, Tim...
Human Mutation. 34 (2012) 1 - p. 111-121 , 2012

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