E-LIB Suche - Ergebnisse für: Maas, Saskia M.

1

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/..

2

GNB1 and obesity: Evidence for a correlation between haploi..:

Kleinendorst, Lotte ; Abawi, Ozair ; Vos, Niels...
Clinical Obesity. , 2024

Link: https://doi.org/10.1111/..

3

Evaluation of 100 Dutch cases with 16p11.2 deletion and dup..:

Vos, Niels ; Kleinendorst, Lotte ; van der Laan, Liselot...
European Journal of Human Genetics. , 2024

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

4

Should testing for mosaic genome-wide paternal uniparental ..:

Maas, Saskia M. ; Krzyzewska, Izabela M. ; Lombardi, Maria P. R....
European Journal of Human Genetics. 31 (2023) 6 - p. 615-616 , 2023

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

5

A cryptic microdeletion del(12)(p11.21p11.23) within an unb..:

Ben-Mahmoud, Afif ; Kishikawa, Shotaro ; Gupta, Vijay...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

6

Evaluating International Diagnostic, Screening, and Monitor..:

Ronde, Elsa M. ; Nolte, Jitske W. ; Kruisinga, Frea H....
The Cleft Palate Craniofacial Journal. 60 (2022) 9 - p. 1118-1127 , 2022

Link: https://doi.org/10.1177/..

7

DNA Methylation Signature for JARID2-Neurodevelopmental Syn..:

Verberne, Eline A. ; van der Laan, Liselot ; Haghshenas, Sadegheh...
International Journal of Molecular Sciences. 23 (2022) 14 - p. 8001 , 2022

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

8

Hematopoietic stem cell transplantation in a patient with p..:

Verhoeven, Dorit ; Schonenberg-Meinema, Dieneke ; Ebstein, Frédéric...
Journal of Allergy and Clinical Immunology. 149 (2022) 3 - p. 1120-1127.e8 , 2022

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

9

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M. ; Truijen, Kim M. G. ; van de Ven, Sam...
Translational Psychiatry. 12 (2022) 1 - p. , 2022

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

10

Terminal osseous dysplasia with pigmentary defects and card..:

Rumping, Lynne ; Wessels, Marja W. ; Postma, Alex V....
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3814-3820 , 2021

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

11

The important role of RPS14, RPL5 and MDM2 in TP53-associat..:

Lin, Yangyang ; Breugem, Corstiaan C. ; Maas, Saskia M...
International Journal of Pediatric Otorhinolaryngology. 151 (2021) - p. 110916 , 2021

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

12

Delineation of phenotypes and genotypes related to cohesin ..:

Krab, Lianne C. ; Marcos-Alcalde, Iñigo ; Assaf, Melissa...
Human Genetics. 139 (2020) 5 - p. 575-592 , 2020

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

13

Transcription alterations of KCNQ1 associated with imprinte..:

Valente, Federica Maria ; Sparago, Angela ; Freschi, Andrea...
Genetics in Medicine. 21 (2019) 8 - p. 1808-1820 , 2019

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

14

Deleterious de novo variants of X‐linkedZC4H2in females cau..:

Frints, Suzanna G.M. ; Hennig, Friederike ; Colombo, Roberto...
Human Mutation. 40 (2019) 12 - p. 2270-2285 , 2019

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

15

SYNGAP1encephalopathy: A distinctive generalized developmen..:

Vlaskamp, Danique R.M. ; Shaw, Benjamin J. ; Burgess, Rosemary...
Neurology. 92 (2019) 2 - p. , 2019

Link: https://doi.org/10.1212/..