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Van Haeringen, Arie
208
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Online (208)
Mediatypes
Articles (Online) (61)
OpenAccess-fulltext (147)
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1
Pathogenic variants in HGF give rise to childhood-to-late o..:
Alpaslan, Murat
;
Fastré, Elodie
;
Mestre, Sandrine
...
Human Molecular Genetics. 33 (2024) 14 - p. 1250-1261 , 2024
Link:
https://doi.org/10.1093/..
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2
Triplications of chromosome 1p36.3, including the genes GAB..:
Pelgrims, Elise
;
Lynch, Sally Ann
;
Hannes, Laurens
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1889-1899 , 2023
Link:
https://doi.org/10.1002/..
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3
Elucidating the clinical and molecular spectrum of SMARCC2-..:
Bosch, Elisabeth
;
Popp, Bernt
;
Güse, Esther
...
Genetics in Medicine. 25 (2023) 11 - p. 100950 , 2023
Link:
https://doi.org/10.1016/..
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4
Epigenotype–genotype–phenotype correlations in SETD1A and S..:
Lee, Sunwoo
;
Menzies, Lara
;
Hay, Eleanor
...
Human Molecular Genetics. 32 (2023) 22 - p. 3123-3134 , 2023
Link:
https://doi.org/10.1093/..
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5
Reanalysis of whole-exome sequencing (WES) data of children..:
van Slobbe, Michelle
;
van Haeringen, Arie
;
Vissers, Lisenka E. L. M.
...
European Journal of Pediatrics. 183 (2023) 1 - p. 345-355 , 2023
Link:
https://doi.org/10.1007/..
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6
Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:
Sobering, Andrew K.
;
Bryant, Laura M.
;
Li, Dong
...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100168 , 2023
Link:
https://doi.org/10.1016/..
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7
Sacral abnormalities including caudal appendage, skeletal d..:
Koene, Saskia
;
Klerx‐Melis, Floortje
;
Roest, Arno Anne Willem
...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3510-3515 , 2022
Link:
https://doi.org/10.1002/..
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8
Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:
Sobering, Andrew K.
;
Bryant, Laura M.
;
Li, Dong
...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100102 , 2022
Link:
https://doi.org/10.1016/..
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9
Recurrent de novo missense variants across multiple histone..:
Tessadori, Federico
;
Duran, Karen
;
Knapp, Karen
...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022
Link:
https://doi.org/10.1016/..
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10
Identification and functional analysis of two new de novo K..:
Liang, Lina
;
Liu, Huihui
;
Bartholdi, Deborah
...
Acta Physiologica. 235 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1111/..
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11
Complementing the phenotypical spectrum of TUBA1A tubulinop..:
Schröter, Julian
;
Popp, Bernt
;
Brennenstuhl, Heiko
...
European Journal of Human Genetics. 30 (2022) 3 - p. 298-306 , 2022
Link:
https://doi.org/10.1038/..
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12
Broadening the Spectrum of Loss-of-Function Variants in NPR..:
Lauffer, Peter
;
Boudin, Eveline
;
van der Kaay, Daniëlle C M
...
Journal of the Endocrine Society. 6 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1210/..
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13
Disruption of NEUROD2 causes a neurodevelopmental syndrome ..:
Runge, Karen
;
Mathieu, Rémi
;
Bugeon, Stéphane
...
Molecular Psychiatry. 26 (2021) 11 - p. 6125-6148 , 2021
Link:
https://doi.org/10.1038/..
?
14
Correction: Disruption of NEUROD2 causes a neurodevelopment..:
Runge, Karen
;
Mathieu, Rémi
;
Bugeon, Stéphane
...
Molecular Psychiatry. 26 (2021) 12 - p. 7852-7852 , 2021
Link:
https://doi.org/10.1038/..
?
15
Heterozygous variants in SPTBN1 cause intellectual disabili..:
Rosenfeld, Jill A.
;
Xiao, Rui
;
Bekheirnia, Mir Reza
...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2037-2045 , 2021
Link:
https://doi.org/10.1002/..
1-15