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European Journal of Human Genetics (12)
Genetics in Medicine (4)
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Showing 1–18 of 18 results

Advanced filters: Author: Robert-Jan H Galjaard Clear advanced filters

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Robert-Jan H Galjaard
Naci Kostakoglu
Peter Heutink
Research14 Sept 2001
European Journal of Human Genetics

Volume: 9, P: 653-658
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura
James S. Sutcliffe
Arthur L. Beaudet
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 74-77
A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34

Robert-Jan H Galjaard
Arie P T Smits
Peter Heutink
Research07 May 2003
European Journal of Human Genetics

Volume: 11, P: 409-415
High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology

Chromatin conformation capture on chip, or 4C, a technique developed to investigate the interaction of one chromosomal region with the rest of the chromatin, can also provide high resolution mapping of translocations and inversions in selected chromosomal regions.

Marieke Simonis
Petra Klous
Wouter de Laat
Research11 Oct 2009
Nature Methods

Volume: 6, P: 837-842
Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study

Iris M. Bakkeren
Lidewij Henneman
Robert-Jan H. Galjaard
Research07 Dec 2023
European Journal of Human Genetics

Volume: 32, P: 302-308
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Diane Van Opstal
Merel C van Maarle
Erik A Sistermans
ResearchOpen Access28 Sept 2017
Genetics in Medicine

Volume: 20, P: 480-485
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

Diane Van Opstal
Marjan Boter
Robert-Jan H Galjaard
Research10 Sept 2008
European Journal of Human Genetics

Volume: 17, P: 112-121
Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program

Karuna R. M. van der Meij
Qiu Ying. F. van de Pol
Elsbeth H. van Vliet-Lachotzki
ResearchOpen Access09 Dec 2022
European Journal of Human Genetics

Volume: 31, P: 555-561
Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes

Adriana Kater-Kuipers
Iris M. Bakkeren
Eline M. Bunnik
Research05 Aug 2020
European Journal of Human Genetics

Volume: 29, P: 2-10
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

Karuna R. M. van der Meij
Annabel Njio
Lidewij Henneman
ResearchOpen Access13 Aug 2021
European Journal of Human Genetics

Volume: 30, P: 661-668
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Malgorzata Srebniak
Marjan Boter
Robert-Jan H Galjaard
Research22 Jun 2011
European Journal of Human Genetics

Volume: 19, P: 1230-1237
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome

Jacob W P Potuijt
Martijn Baas
Annelies de Klein
Research15 Mar 2018
Genetics in Medicine

Volume: 20, P: 1405-1413
Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake

Sanne L. van der Steen
Diewertje Houtman
Sam R. Riedijk
Research08 Oct 2018
European Journal of Human Genetics

Volume: 27, P: 235-243
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

Malgorzata I Srebniak
Karin EM Diderich
Diane Van Opstal
Research02 Sept 2015
European Journal of Human Genetics

Volume: 24, P: 645-651
Structural and numerical changes of chromosome X in patients with esophageal atresia

Erwin Brosens
Elisabeth M de Jong
Annelies de Klein
Research08 Jan 2014
European Journal of Human Genetics

Volume: 22, P: 1077-1084
It all begins with the phenotype

Jacob W. P. Potuijt
Robert-Jan H. Galjaard
Christianne A. van Nieuwenhoven
Correspondence11 Dec 2019
Genetics in Medicine

Volume: 22, P: 817-818
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

Malgorzata I Srebniak
Karin EM Diderich
Diane Van Opstal
Correspondence06 Nov 2013
European Journal of Human Genetics

Volume: 22, P: 856-858
Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

Malgorzata I. Srebniak
Lutgarde C. P. Govaerts
Diane Van Opstal
Comments & Opinion09 Jul 2015
Genetics in Medicine

Volume: 18, P: 307-308