Research Explorer

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Julie Van De Velde

Prijzen & Erkenningen

9 Resultaten

2023

Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

Hannes SyrynHannah VerdinJulie Van De VeldeMarianne BeckerCécile BrachetMarieke Den BrinkerSylvia DepoorterJulie FudvoyeDaniel KlinkPhilippe Lysy et al.

Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series

Lloyd TackCecile BrachetVeronique BeauloyeClaudine HeinrichsE BorosKathleen De WaeleSaskia van der StraatenSara Van AkenAnnelies LemayAnne Rochtus et al.

A1 Artikel in een tijdschrift in HUMAN REPRODUCTION OPEN

RXFP2 : validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Hannes SyrynHannah VerdinJulie Van De VeldeFrank PeelmanMarianne BeckerCecile BrachetMarieke den BrinkerSylvia DepoorterJulie FudvoyeDaniel Klink et al.

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study

Martine CoolsCelien GrijpJana NeirinckSimon TavernierPetra SchelstraeteJulie Van De VeldeLieve MorbéeElfride De BaereCarolien BonroyYolande van Bever et al.

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF ENDOCRINOLOGY

2022

Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study

Lloyd TackAnne-Françoise SpinoitPiet HoebekeStefan RiedlAlexander SpringerUrsula TonnhoferManuela HiessJulia WeningerAhmed MahmoudKelly Tilleman et al.

A1 Artikel in een tijdschrift in EBIOMEDICINE

2021

Individuals with NR5A1 (SF1) mutations and atypical sex development and their asymptomatic family member carriers are at high risk of hyposplenism

Celien GrijpSimon TavernierJana NeirinckMaha Abdullhadi-AtwanJulie Van De VeldeDorien BaetensHannah VerdinLieve MorbéeElfride De BaereDavid Zangen et al.

2020

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah VerdinToon RosseelSascha VermeerIrina BalikovaPhilippe KestelynColombine MeunierFrançoise MeireJulie Van De VeldeOlivier VanakkerJenneke Van Den Ende et al.

2019

Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma : lessons learned from a large consanguineous family with pseudodominance

Hannah VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere

Expanding the differential diagnosis of primary congenital glaucoma : molecular lessons learned from a large consanguineous family

Hannah VerdinIrina BalikovaJulie Van De VeldePhilippe KestelynBart LeroyElfride De Baere