E-LIB Suche - Ergebnisse für: Binsbergen, Ellen van

1

The effect of breathing exercises and mindset with or witho..:

Hoekstra, Sven ; Ettema, Frank ; van der Bijll, Max...
Spinal Cord. 62 (2024) 5 - p. 237-240 , 2024

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

2

Delineation of a KDM2B-related neurodevelopmental disorder ..:

van Jaarsveld, Richard H. ; Reilly, Jack ; Cornips, Marie-Claire...
Genetics in Medicine. 25 (2023) 1 - p. 49-62 , 2023

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

3

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 10 - p. 100927 , 2023

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

4

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023

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

5

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine. 25 (2023) 11 - p. 100964 , 2023

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

6

Clinical diversity and molecular mechanism of VPS35L-associ..:

Otsuji, Shiomi ; Nishio, Yosuke ; Tsujita, Maki...
Journal of Medical Genetics. 60 (2022) 4 - p. 359-367 , 2022

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

7

Syndromic disorders caused by gain-of-function variants in ..:

Gripp, Karen W. ; Smithson, Sarah F. ; Scurr, Ingrid J....
European Journal of Human Genetics. 29 (2021) 9 - p. 1384-1395 , 2021

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

8

Truncating SRCAP variants outside the Floating-Harbor syndr..:

Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M....
The American Journal of Human Genetics. 108 (2021) 6 - p. 1053-1068 , 2021

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

9

CSNK2B: A broad spectrum of neurodevelopmental disability a..:

Ernst, Michelle E. ; Baugh, Evan H. ; Thomas, Amanda...
Epilepsia. 62 (2021) 7 - p. , 2021

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

10

Clinical Characteristics and Genetic Etiology of Children W..:

Plug, Marielle B. ; van Wijngaarden, Vivian ; de Wilde, Hester...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

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

11

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K. ; Nakayama, Tojo ; Lai, Jenny...
Genetics in Medicine. 23 (2021) 6 - p. 1028-1040 , 2021

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

12

Prioritization of genes driving congenital phenotypes of pa..:

Middelkamp, Sjors ; Vlaar, Judith M. ; Giltay, Jacques...
Genome Medicine. 11 (2019) 1 - p. , 2019

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

13

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, Eduardo ; Hervieu, Alexia ; Kaserer, Teresa...
The American Journal of Human Genetics. 104 (2019) 4 - p. 709-720 , 2019

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

14

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, Richard J. ; Young, Rodrigo M. ; Crespo, Berta...
The American Journal of Human Genetics. 105 (2019) 3 - p. 640-657 , 2019

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

15

Deletions and loss-of-function variants in TP63 associated ..:

Khandelwal, Kriti D. ; van den Boogaard, Marie-José H. ; Mehrem, Sarah L....
European Journal of Human Genetics. 27 (2019) 7 - p. 1101-1112 , 2019

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