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1

Recruitment of trimeric eIF2 by phosphatase non-catalytic s..:

Fatalska, Agnieszka ; Hodgson, George ; Freund, Stefan M.V....
Molecular Cell. 84 (2024) 3 - p. 506-521.e11 , 2024

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

2

Hypomagnesaemia with varying degrees of extrarenal symptoms..:

Bosman, Willem ; Franken, Gijs A. C. ; de las Heras, Javier...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics. , 2024

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

4

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine. 26 (2024) 6 - p. 101119 , 2024

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

5

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics. , 2024

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

6

EMQN: Recommendations for genetic testing in inherited card..:

Hayesmoore, Jesse B. ; Bhuiyan, Zahurul A. ; Coviello, Domenico A....
European Journal of Human Genetics. 31 (2023) 9 - p. 1003-1009 , 2023

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

7

Intrafamilial variability in SLC6A1-related neurodevelopmen..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

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

8

The arrhythmogenic cardiomyopathy phenotype associated with..:

Bos, Thomas A. ; Piers, Sebastiaan R. D. ; Wessels, Marja W....
Netherlands Heart Journal. 31 (2023) 7-8 - p. 315-323 , 2023

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

9

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
Acta Neuropathologica. 146 (2023) 2 - p. 353-368 , 2023

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

10

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/..

11

Biallelic variants in FLII cause pediatric cardiomyopathy b..:

Ruijmbeek, Claudine W.B. ; Housley, Filomena ; Idrees, Hafiza...
JCI Insight. 8 (2023) 17 - p. , 2023

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

12

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/..

13

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain. 146 (2023) 11 - p. 4547-4561 , 2023

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

14

Corrigendum: Intrafamilial variability in SLC6A1-related ne..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

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

15

TFAP2B Haploinsufficiency Impacts Gastrointestinal Function..:

Zada, Almira ; Kuil, Laura E. ; de Graaf, Bianca M....
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

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

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