E-LIB Suche - Ergebnisse für: CAUSES Study

1

The experiences of adolescent siblings of children with rar..:

Heaton, Julia ; Wainstein, Tasha ; Elliott, Alison M....
Journal of Genetic Counseling. 32 (2022) 1 - p. 224-234 , 2022

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

2

Front Cover, Volume 43, Issue 7:

Sharma, Saloni ; Hourigan, Brenna ; Patel, Zain...
Human Mutation. 43 (2022) 7 - p. , 2022

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

3

NovelCICvariants identified in individuals with neurodevelo..:

Sharma, Saloni ; Hourigan, Brenna ; Patel, Zain...
Human Mutation. 43 (2022) 7 - p. 889-899 , 2022

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

4

The long‐term impact of receiving incidental findings on pa..:

Cheung, Faith ; Birch, Patricia ; Friedman, J. M....
Journal of Genetic Counseling. 31 (2022) 4 - p. 887-900 , 2022

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

5

New cases that expand the genotypic and phenotypic spectrum..:

Szot, Justin O. ; Slavotinek, Anne ; Chong, Karen...
Human Mutation. 42 (2021) 7 - p. 862-876 , 2021

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

6

Targeted treatment of immune thrombocytopenia in CTLA‐4 ins..:

Lai, Chieh Min Benjamin ; Setiadi, Audi ; Barlas, Angeliki...
British Journal of Haematology. 196 (2021) 3 - p. , 2021

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

7

After genomic testing results: Parents' long‐term views:

Liang, Nicole Si Yan ; Adam, Shelin ; Elliott, Alison M....
Journal of Genetic Counseling. 31 (2021) 1 - p. 82-95 , 2021

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

8

Correction to: Genome-wide sequencing as a first-tier scree..:

Rajan-Babu, Indhu-Shree ; Peng, Junran J. ; Chiu, Readman...
Genome Medicine. 13 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

9

Genome-wide sequencing as a first-tier screening test for s..:

Rajan-Babu, Indhu-Shree ; Peng, Junran J. ; Chiu, Readman...
Genome Medicine. 13 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

10

NAA10 p.(N101K) disrupts N-terminal acetyltransferase compl..:

McTiernan, Nina ; Gill, Harinder ; Prada, Carlos E....
European Journal of Human Genetics. 29 (2020) 2 - p. 280-288 , 2020

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

11

The expanding clinical phenotype of germlineABL1‐associated..:

Chen, Chun‐An ; Crutcher, Emeline ; Gill, Harinder...
Human Mutation. 41 (2020) 10 - p. 1738-1744 , 2020

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

12

De novo TBR1 variants cause a neurocognitive phenotype with..:

CAUSES Study ; Nambot, Sophie ; Faivre, Laurence...
European Journal of Human Genetics. 28 (2020) 6 - p. 770-782 , 2020

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

13

KDM5A mutations identified in autism spectrum disorder usin..:

El Hayek, Lauretta ; Tuncay, Islam Oguz ; Nijem, Nadine...
eLife. 9 (2020) - p. , 2020

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

14

Strabismus in Children With Intellectual Disability: Part o..:

Ye, Xin (Cynthia) ; van der Lee, Robin ; Wasserman, Wyeth W....
Pediatric Neurology. 100 (2019) - p. 87-91 , 2019

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

15

Renpenning syndrome in a female:

Cho, Raymond Y. ; Peñaherrera, Maria S. ; Du Souich, Christele...
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 498-503 , 2019

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