Hilde Van Esch | Researchain

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Featured researches published by Hilde Van Esch.

Molecular Brain Research | 2004

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

Karine Poirier; Hilde Van Esch; Gaëlle Friocourt; Yoann Saillour; Nadia Bahi; Stéphanie Backer; Evelyne Souil; Laetitia Castelnau-Ptakhine; Cherif Beldjord; Fiona Francis; Thierry Bienvenu; Jamel Chelly

Abstract book | 2011

Next-generation sequencing in >240 families with X-linked intellectual disability

Vera M. Kalscheuer; Hao Hu; Stefan A. Haas; Jamel Chelly; Hilde Van Esch; Martine Raynaud; Sgm Frints; De Brouwer A; Jozef Gecz; Stefanie Weinert; Z Zemojtel; Michael I. Love; Guy Froyen; Frédéric Laumonnier; Hugues Richard; A Emde; Melanie Bienek; Corinna Jensen; M Hambrock; Nicolas Lebrun; Mark Corbett; Chuan Tan; Cep Van Rozendaal; M Pocquet; Nathalie Ronce; E Sun; A Hacket; Michael Field; Eric Haan; J Nelson

Abstract book | 2018

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

Nathalie Brison; Maria Neofytou; L Dehaspe; Baran Bayindir; Kris Van Den Bogaert; Leila Dardour; Hilde Peeters; Hilde Van Esch; Griet Van Buggenhout; Annick Vogels; Thomy de Ravel de l'Argentière; Eric Legius; Koenraad Devriendt; Joris Vermeesch

Online abstracts | 2017

Unravelling the pathophysiology of a novel tubulinopathy: Circumferential Skin Creases syndrome, Kunze type

Cedric Thues; Mala Isrie; Susanna Raitano; Julia Manetsberger; Nils Schoovaerts; Patrik Verstreken; Hilde Van Esch

Online abstracts | 2017

STIL compound heterozygous mutations cause microcephaly via centriolar lengthening

Hilde Van Esch; Francesca Cristofoli; Bart De Keersmaecker; Luc De Catte; Joris Vermeesch

Abstract book | 2017

The clinical relevance of intragenic NRXN1 deletions

Nele Cosemans; Laura Vandenhove; Greet Peeters; Thomy de Ravel de l'Argentière; Koenraad Devriendt; Eric Legius E; Griet Van Buggenhout; Hilde Van Esch; Annick Vogels A; Joris Vermeesch; Hilde Peeters

Abstract book | 2017

Detecting AGG interruptions in male and female FMR1 premutation carriers by single-molecule sequencing

Simon Ardui; Valerie Race; Alena Zablotskaya; Matthew S. Hestand; Hilde Van Esch; Koenraad Devriendt; Gert Matthijs; Joris Vermeesch

online abstracts | 2016

Identification of Congenital Diaphragmatic Hernia genes by Whole Exome Sequencing

Molka Kammoun; Paul Brady; Hilde Van Esch; Jan Deprest; Koenraad Devriendt; Joris Vermeesch

online abstracts | 2016

STIL compound heterozygous mutations detected prenatally cause of microcephaly, brain abnormalities and embrionic lethality?

Francesca Cristofoli; Bart De Keersmaecker; Hilde Van Esch; Joris Vermeesch

online abstracts | 2016

A distinct class of chromoanagenesis events characterized by focal copy number gains

Heleen Masset; Matthew S. Hestand; Hilde Van Esch; Pascale Kleinfinger; Julie Plaisancié; Alexandra Afenjar; R Molignier; C Sluth-Bolard; Sanlaville; Joris Vermeesch

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