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Ruivenkamp, Claudia A.L
279  results:
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1

Refining the 9q34.3 microduplication syndrome reveals mild ..:

Rots, Dmitrijs ; Rooney, Kathleen ; Relator, Raissa...
Clinical Genetics.  105 (2024)  6 - p. 655-660 , 2024
Link: https://doi.org/10.1111/..
 
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2

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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3

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics.  31 (2023)  4 - p. 461-468 , 2023
Link: https://doi.org/10.1038/..
 
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4

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

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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6

The Phenotypic Continuum ofATP1A3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
Neurology.  99 (2022)  14 - p. , 2022
Link: https://doi.org/10.1212/..
 
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7

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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8

Diagnostic Value of a Protocolized In-Depth Evaluation of P..:

Atmar, Khaled ; Ruivenkamp, Claudia A. L. ; Hooimeijer, Louise...
Frontiers in Immunology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology.  92 (2022)  2 - p. 304-321 , 2022
Link: https://doi.org/10.1002/..
 
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10

Biallelic ADAM22 pathogenic variants cause progressive ence..:

van der Knoop, Marieke M ; Maroofian, Reza ; Fukata, Yuko...
Brain.  145 (2022)  7 - p. 2301-2312 , 2022
Link: https://doi.org/10.1093/..
 
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11

Biallelic loss of LDB3 leads to a lethal pediatric dilated ..:

Koopmann, Tamara T. ; Jamshidi, Yalda ; Naghibi-Sistani, Mohammad...
European Journal of Human Genetics.  31 (2022)  1 - p. 97-104 , 2022
Link: https://doi.org/10.1038/..
 
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12

Episignature Mapping of TRIP12 Provides Functional Insight ..:

van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle...
International Journal of Molecular Sciences.  23 (2022)  22 - p. 13664 , 2022
Link: https://doi.org/10.3390/..
 
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13

Expansion and mechanistic insights into de novo DEAF1 varia..:

McGee, Stacey R ; Rajamanickam, Shivakumar ; Adhikari, Sandeep...
Human Molecular Genetics.  32 (2022)  3 - p. 386-401 , 2022
Link: https://doi.org/10.1093/..
 
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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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15

Further delineation of phenotypic spectrum of SCN2A‐related..:

Richardson, Ruth ; Baralle, Diana ; Bennett, Christopher...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 867-877 , 2021
Link: https://doi.org/10.1002/..
 
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