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European Journal of Human Genetics (18)
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Showing 51–62 of 62 results

Advanced filters: Author: David A Koolen Clear advanced filters

Assessment of the drugability of initial malaria infection through miniaturized sporozoite assays and high-throughput screening

A high-throughput screening pipeline tests the feasibility of targeting the sporozoite stage of P. falciparum through chemical interventions and identifies gramicidin as a potential sporontocidal agent.

Marie Miglianico
Judith M. Bolscher
Koen J. Dechering
ResearchOpen Access23 Feb 2023
Communications Biology

Volume: 6, P: 1-10
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling
Diante E. Stremmelaar
Tjitske Kleefstra
Research28 Apr 2020
Molecular Psychiatry

Volume: 26, P: 2013-2024
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen
Alexander Hoischen
Bert B. A. de Vries
Research05 Dec 2017
European Journal of Human Genetics

Volume: 26, P: 54-63
Variability in dentofacial phenotypes in four families with WNT10A mutations

Christian P Vink
Charlotte W Ockeloen
Carine E L Carels
Research08 Jan 2014
European Journal of Human Genetics

Volume: 22, P: 1063-1070
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger
Trine B. Hammer
Ingrid E. Scheffer
Research04 Nov 2020
Genetics in Medicine

Volume: 23, P: 363-373
Aminoacyl-tRNA synthetase deficiencies in search of common themes

Sabine A. Fuchs
Imre F. Schene
Peter M. van Hasselt
Research06 Jun 2018
Genetics in Medicine

Volume: 21, P: 319-330
The contribution of copy number variants to psychiatric symptoms and cognitive ability

Josephine Mollon
Laura Almasy
David C. Glahn
Reviews03 Feb 2023
Molecular Psychiatry

Volume: 28, P: 1480-1493
Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje W M van Bon
David A Koolen
Bert BA de Vries
Amendments and Corrections23 Sept 2010
European Journal of Human Genetics

Volume: 18, P: 1171
Labeling and tracking of immune cells in ex vivo human skin

This protocol describes how to follow the behavior of immune cells by imaging ex vivo cultured human or mouse skin biopsies following labeling with antibody or nanobody reagents against specific cell surface markers.

Feline E. Dijkgraaf
Mireille Toebes
Ton N. Schumacher
Protocols21 Dec 2020
Nature Protocols

Volume: 16, P: 791-811
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

David A Koolen
Nine V A M Knoers
Bert B A de Vries
Correspondence24 Aug 2005
European Journal of Human Genetics

Volume: 13, P: 1169-1171
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Sabine A. Fuchs
Imre F. Schene
Peter M. van Hasselt
Amendments and Corrections15 Sept 2020
Genetics in Medicine

Volume: 23, P: 2024
Cerebral oxygen saturation and autoregulation during hypotension in extremely preterm infants

Liesbeth Thewissen
Gunnar Naulaers
Eugene Dempsey
Research20 Apr 2021
Pediatric Research

Volume: 90, P: 373-380