E-LIB Suche - Ergebnisse für: Terhal, Paulien

1

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1470-1481 , 2023

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

2

Loss-of-function variants in SRRM2 cause a neurodevelopment..:

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
Genetics in Medicine. 24 (2022) 8 - p. 1774-1780 , 2022

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

3

TheMAP3K7gene: Further delineation of clinical characterist..:

van Woerden, Geeske M. ; Senden, Richelle ; de Konink, Charlotte...
Human Mutation. 43 (2022) 10 - p. 1377-1395 , 2022

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

4

Pathogenic variants of sphingomyelin synthase SMS2 disrupt ..:

Parolek, Jan ; Sokoya, Tolulope ; Foged, Mads Møller...
eLife. 11 (2022) - p. , 2022

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

5

Missense MED12 variants in 22 males with intellectual disab..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra‐Isrie, Mala...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 135-143 , 2022

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

6

TAB2 deletions and variants cause a highly recognisable syn..:

Engwerda, Aafke ; Leenders, Erika K. S. M. ; Frentz, Barbara...
European Journal of Human Genetics. 29 (2021) 11 - p. 1669-1676 , 2021

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

7

Variants in CAPZA2, a member of an F-actin capping complex,..:

Bellen, Hugo J ; Wang, Hua ; Li, Qibin...
Human Molecular Genetics. 29 (2020) 9 - p. 1537-1546 , 2020

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

8

Characterization of SETD1A haploinsufficiency in humans and..:

Kummeling, Joost ; Stremmelaar, Diante E. ; Raun, Nicholas...
Molecular Psychiatry. 26 (2020) 6 - p. 2013-2024 , 2020

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

9

Identification of human D lactate dehydrogenase deficiency:

Monroe, Glen R. ; van Eerde, Albertien M. ; Tessadori, Federico...
Nature Communications. 10 (2019) 1 - p. , 2019

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

10

Biallelic variants in POLR3GL cause endosteal hyperostosis ..:

Terhal, Paulien A. ; Vlaar, Judith M. ; Middelkamp, Sjors...
European Journal of Human Genetics. 28 (2019) 1 - p. 31-39 , 2019

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

11

De novo substitutions of TRPM3 cause intellectual disabilit..:

Dyment, David A. ; Terhal, Paulien A. ; Rustad, Cecilie F....
European Journal of Human Genetics. 27 (2019) 10 - p. 1611-1618 , 2019

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

12

Osteoporosis and skeletal dysplasia caused by pathogenic va..:

Pekkinen, Minna ; Terhal, Paulien A. ; Botto, Lorenzo D....
JCI Insight. 4 (2019) 7 - p. , 2019

Link: https://doi.org/10.1172/..

13

Further delineation of an entity caused by CREBBP and EP300..:

Menke, Leonie A. ; Gardeitchik, Thatjana ; Hammond, Peter...
American Journal of Medical Genetics Part A. 176 (2018) 4 - p. 862-876 , 2018

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

14

De novo mutations in MED13, a component of the Mediator com..:

The DDD study ; Snijders Blok, Lot ; Hiatt, Susan M....
Human Genetics. 137 (2018) 5 - p. 375-388 , 2018

Link: https://doi.org/10.1007/..

15

Further delineation of the GDF6 related multiple synostoses..:

Terhal, Paulien A. ; Verbeek, Nienke E. ; Knoers, Nine...
American Journal of Medical Genetics Part A. 176 (2017) 1 - p. 225-229 , 2017

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