E-LIB Suche - Ergebnisse für: Smagt, J.J. (Jasper) van der

1

Identification of a pathogenic deep intronic variant in ATR..:

van der Smagt, Jasper J. ; Lampri, Angeliki P. ; de Lange, Iris...
European Journal of Medical Genetics. 69 (2024) - p. 104949 , 2024

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

2

Loss-of-function of activity-dependent neuroprotective prot..:

D'Incal, Claudio Peter ; Annear, Dale John ; Elinck, Ellen...
European Journal of Human Genetics. 32 (2024) 6 - p. 630-638 , 2024

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

3

Diagnostic utility and reporting recommendations for clinic..:

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A....
Genetics in Medicine. 26 (2024) 5 - p. 101075 , 2024

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

4

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/..

5

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/..

6

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine. 25 (2023) 8 - p. 100871 , 2023

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

7

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023

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

8

Neurodevelopmental and other phenotypes recurrently associa..:

Sewani, Soha ; Azamian, Mahshid S. ; Mendelsohn, Bryce A....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

9

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/..

10

Telomere dysfunction implicates POT1 in patients with idiop..:

Kelich, Joseph ; Aramburu, Tomas ; van der Vis, Joanne J....
Journal of Experimental Medicine. 219 (2022) 5 - p. , 2022

Link: https://doi.org/10.1084/..

11

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
Genetics in Medicine. 24 (2022) 4 - p. 880-893 , 2022

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

12

Genetic testing in interstitial lung disease: An internatio..:

Terwiel, Michelle ; Borie, Raphael ; Crestani, Bruno...
Respirology. 27 (2022) 9 - p. 747-757 , 2022

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

13

Persistent Müllerian duct syndrome associated with genetic ..:

Picard, Jean-Yves ; Morin, Gilles ; Devouassoux-Shisheboran, Mojgan...
Human Reproduction. 37 (2022) 12 - p. 2952-2959 , 2022

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

14

Reclassification of a likely pathogenic Dutch founder varia..:

Copier, Jaël S ; Bootsma, Marianne ; Ng, Chai A...
Human Molecular Genetics. 32 (2022) 7 - p. 1072-1082 , 2022

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

15

Enhanced hepatic clearance of hyposialylated platelets expl..:

Noordermeer, Tessa ; van Asten, Ivar ; Schutgens, Roger E. G....
Blood Advances. 6 (2022) 11 - p. 3347-3351 , 2022

Link: https://doi.org/10.1182/..