Hilde M H Braakman

9PUBLICATIONS
68CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Cellular nervous systemInfant and child healthNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Aug 23, 2024
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Vincent Moya Quiros, Ahmed Adham, Philippe Convers

|Aug 08, 2023
Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians.

Lynn B Orriëns, Dilan Eker, Hilde M H Braakman

|Jul 05, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Kim M Thalwitzer, Jan H Driedger, Julie Xian

|Jan 31, 2023
Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes.

Fleur van den Udenhout, Peter Merkus, Sandra Verhaagen-van den Akker

|Jun 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Devon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin

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