Suchergebnisse - "Stuurman, Kyra E"

PubPharm (4)

1

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

enthalten in: Translational psychiatry | 2022

von Dingemans, A. | Truijen, K. | van de Ven, S. | +32

2

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

enthalten in: Genes | 2021

von van der Sluijs, P. | Alders, M. | Dingemans, A. | +20

3

Primrose syndrome : Characterization of the phenotype in 42 patients

enthalten in: Clinical genetics | 2020

von Melis, D. | Carvalho, D. | Barbaro-Dieber, T. | +27

4

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Konrad, E. | Nardini, N. | Caliebe, A. | +61

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