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Van Haeringen, Arie
208  results:
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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/..
 
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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/..
 
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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/..
 
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