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Barbara W van Paassen

Showing results (1-10 of 8) with videos related to

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Journal of Child Neurology|July 4, 2012
Severe fatigue and reduced quality of life in children with hereditary motor and sensory neuropathy 1AElbrich Jagersma, Martine Jeukens-Visser, Barbara W van Paassen, et al.
Journal of the Peripheral Nervous System : JPNS|August 25, 2017
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutationsBarbara W van Paassen, Marieke Bronk, Camiel Verhamme, et al.
Orphanet Journal of Rare Diseases|March 21, 2014
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure PalsiesBarbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, et al.
Neurology. Genetics|November 24, 2025
Search for Additional Pathogenic Variants to Explain Variation in <i>PMP22</i>-Related NeuropathiesBarbara W van Paassen, Camiel Verhamme, Fred van Ruissen, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
The phenotype of the Gly94fsX222 PMP22 insertionSara D J de Vries, Camiel Verhamme, Fred van Ruissen, et al.
Cancers|August 7, 2019
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening GuidelinesCindy Chau, Remco van Doorn, Natasha M van Poppelen, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Journal of Child Neurology|July 4, 2012
Severe fatigue and reduced quality of life in children with hereditary motor and sensory neuropathy 1AElbrich Jagersma, Martine Jeukens-Visser, Barbara W van Paassen, et al.
Journal of the Peripheral Nervous System : JPNS|August 25, 2017
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutationsBarbara W van Paassen, Marieke Bronk, Camiel Verhamme, et al.
Orphanet Journal of Rare Diseases|March 21, 2014
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure PalsiesBarbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, et al.
Neurology. Genetics|November 24, 2025
Search for Additional Pathogenic Variants to Explain Variation in <i>PMP22</i>-Related NeuropathiesBarbara W van Paassen, Camiel Verhamme, Fred van Ruissen, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
The phenotype of the Gly94fsX222 PMP22 insertionSara D J de Vries, Camiel Verhamme, Fred van Ruissen, et al.
Cancers|August 7, 2019
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening GuidelinesCindy Chau, Remco van Doorn, Natasha M van Poppelen, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Pageof 1