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H

Hilde Peeters

human genetics department
H指数:46
被引数:8,199

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Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome

三种神经发育障碍的三维面部表型分析：Koolen-de Vries综合征、Jansen-de Vries综合征和KBG综合征

European Journal of Human Genetics
IF4.6
2026-09-100
PRE
Jolijn J. A. Verseput; Nina Claessens; Michiel Vanneste; Guido de Jong; Hilde Peeters; Benedikt Hallgrímsson; Leonie M. de Vries; Sanne L. de Vries; Thomas Maal; Peter Claes; Bert B. A. de Vries
Shared genetic basis and structure of syndromic and normal facial variation

综合征性及正常面部变异共享的遗传基础与结构

American Journal of Human Genetics
IF8.1
2026-08-210
PRE
J. David Aponte; Cassidy Da Silva; Hanne Hoskens; Seppe Goovaerts; Michiel Vanneste; Jay Devine; Katherine Caine; Alexander Buchner Beaudet; H. Artee Luchman; Seth M. Weinberg; Hilde Peeters; Ophir D. Klein; Ralph S. Marcucio; A. Micheil Innes; Peter Claes; Richard A. Spritz; Francois P. Bernier; Benedikt Hallgrímsson
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

E3泛素连接酶衔接子KLHL20中的De novo错义变体导致发育障碍，包括智力障碍，癫痫和自闭症谱系障碍

GENETICS IN MEDICINE
IF6.2
2022-12-013
PRE
Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde

研究方向

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P
Peter Claes
H 指数:41论文数:328被引数:6,325
H
Harold Matthews
H 指数:17论文数:70被引数:1,121
K
Koenraad Devriendt
H 指数:87论文数:1,126被引数:3.0万
J
Joris Vermeesch
H 指数:84论文数:988被引数:3.0万
B
Benedikt Hallgrímsson
H 指数:59论文数:332被引数:1.1万
E
Eric Legius
H 指数:78论文数:576被引数:2.3万
J
Jozef Gécz
H 指数:97论文数:804被引数:3.0万
I
Ingrid E. Scheffer
H 指数:141论文数:1,049被引数:8.9万
R
R. Frank Kooy
H 指数:68论文数:380被引数:1.6万
C
Corrado Romano
H 指数:60论文数:416被引数:1.8万