Suchergebnisse - "Suerink, Manon"

PubPharm (44)

1

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

enthalten in: European journal of human genetics : EJHG | 2024

von Layo-Carris, D. | Lubin, E. | Sangree, A. | +84

2

Correction : Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

enthalten in: European journal of human genetics : EJHG | 2024

von Paulet, A. | Bennett-Ness, C. | Ageorges, F. | +46

ErratumFor: Eur J Hum Genet. 2024 Feb 15;:. - PMID 38355961

3

De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops

enthalten in: Journal of medical genetics | 2024

von de Koning, M. | Pimienta Ramirez, P. | Haak, M. | +14

4

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

enthalten in: European journal of human genetics : EJHG | 2024

von Paulet, A. | Bennett-Ness, C. | Ageorges, F. | +46

ErratumIn: Eur J Hum Genet. 2024 Apr 3;:. - PMID 38565641

5

Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients

enthalten in: BMC cancer | 2024

von Terlouw, D. | Boot, A. | Ducarmon, Q. | +11

6

Relation between WHO Classification and Location- and Functionality-Based Classifications of Neuroendocrine Neoplasms of the Digestive Tract

enthalten in: Neuroendocrinology | 2024

von Helderman, N. | Suerink, M. | Kilinç, G. | +3

7

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

enthalten in: European journal of pediatrics | 2024

von van Slobbe, M. | van Haeringen, A. | Vissers, L. | +6

8

APC mosaicism, not always isolated : two first-degree relatives with apparently distinct APC mosaicism

enthalten in: Gut | 2023

von Terlouw, D. | Hes, F. | Suerink, M. | +10

9

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

enthalten in: ResearchSquare.com | 2023

von Slobbe, M. | Haeringen, A. | Vissers, L. | +6

10

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

enthalten in: European journal of pediatrics | 2023

von van Slobbe, M. | van Haeringen, A. | Vissers, L. | +6

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