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European Journal of Human Genetics (3)
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Showing 1–12 of 12 results

Advanced filters: Author: Esther de Graaff Clear advanced filters

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Kristel De Boulle
Annemieke J.M.H. Verkerk
Patrick J. Willems
Research01 Jan 1993
Nature Genetics

Volume: 3, P: 31-35
The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

Edwin Reyniers
Lieve Vits
Patrick J. Willems
Research01 Jun 1993
Nature Genetics

Volume: 4, P: 143-146
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Coleta Verheij
Cathy E. Bakker
Ben A. Oostra
Research24 Jun 1993
Nature

Volume: 363, P: 722-724
Characterization of the full fragile X syndrome mutation in fetal gametes

Henry E. Malter
Jane C. Iber
Ben A. Oostra
Research01 Feb 1997
Nature Genetics

Volume: 15, P: 165-169
Radiation Dosimetry with Sodium Cacodylate and Tris

HILLEL S. LEVINSON
ESTHER B. GARBER
Research14 Aug 1965
Nature

Volume: 207, P: 751-752
Correction: Corrigendum: A role for Bicaudal-D2 in radial cerebellar granule cell migration

Dick Jaarsma
Robert van den Berg
Casper C. Hoogenraad
Amendments and Corrections07 Jul 2014
Nature Communications

Volume: 5, P: 1
Maternal dietary patterns and offspring behavioral problems

Esther Cendra-Duarte
Josefa Canals
Victoria Arija
Research13 Sept 2024
Pediatric Research

Volume: 97, P: 1882-1891
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton
Corinne L. Lendon
Peter Heutink
Research18 Jun 1998
Nature

Volume: 393, P: 702-705
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
A role for Bicaudal-D2 in radial cerebellar granule cell migration

Bicaudal-D is an evolutionary conserved dynein adaptor protein, and missense mutations in this protein are associated with spinal muscular atrophy (SMA). Here, Jaarsma et al.show that Bicaudal-D also plays an essential role in controlling neuronal migration and lamination in the developing mouse cerebellum.

Dick Jaarsma
Robert van den Berg
Casper C. Hoogenraad
Research11 Mar 2014
Nature Communications

Volume: 5, P: 1-13
Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

Bert B. A. de Vries
Agnes M. Wiegers
Ben A. Oostra
Research01 Jan 1993
European Journal of Human Genetics

Volume: 1, P: 72-79
FMR1 Premutation Allele (CGG)₈₁ Is Stable in Mice

Carola J. M. Bontekoe
Esther de Graaff
Ben A. Oostra
Research01 Sept 1997
European Journal of Human Genetics

Volume: 5, P: 293-298