E-LIB Suche - Ergebnisse für: Jennifer Kerkhof

1

Haploinsufficiency of ZFHX3, encoding a key player in neuro..:

Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies...
The American Journal of Human Genetics. 111 (2024) 3 - p. 509-528 , 2024

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

2

Novel PUF60 variant suggesting an interaction between Verhe..:

Hoogenboom, Amarens ; Falix, Farah A. ; van der Laan, Liselot...
European Journal of Human Genetics. 32 (2024) 4 - p. 435-439 , 2024

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

3

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics. 143 (2024) 6 - p. 761-773 , 2024

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

4

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/..

5

De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralog..:

Bukvic, Nenad ; De Rinaldis, Marta ; Chetta, Massimiliano...
Genes. 15 (2024) 7 - p. 826 , 2024

Link: https://doi.org/10.3390/..

6

The missing link: ARID1B non-truncating variants causing Co..:

Bosch, Elisabeth ; Güse, Esther ; Kirchner, Philipp...
Human Genetics. , 2024

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

7

Congenital hyperinsulinism and novel KDM6A duplications -re..:

Männistö, Jonna M E ; Hopkins, Jasmin J ; Hewat, Thomas I...
The Journal of Clinical Endocrinology & Metabolism. , 2024

Link: https://doi.org/10.1210/..

8

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine. 26 (2024) 3 - p. 101041 , 2024

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

9

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100287 , 2024

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

10

DNA methylation analysis in patients with neurodevelopmenta..:

Trajkova, Slavica ; Kerkhof, Jennifer ; Rossi Sebastiano, Matteo...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100309 , 2024

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

11

MSL2 variants lead to a neurodevelopmental syndrome with la..:

Karayol, Remzi ; Borroto, Maria Carla ; Haghshenas, Sadegheh...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1330-1351 , 2024

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

12

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024

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

13

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics. , 2024

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

14

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/..

15

DNA methylation episignature for Witteveen-Kolk syndrome du..:

Coenen-van der Spek, Jet ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine. 25 (2023) 1 - p. 63-75 , 2023

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