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Nature Genetics (5)
European Journal of Human Genetics (4)
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Showing 1–11 of 11 results

Advanced filters: Author: Frits A Beemer Clear advanced filters

Identification of the familial cylindromatosis tumour-suppressor gene

Graham R. Bignell
William Warren
Michael R. Stratton
Research01 Jun 2000
Nature Genetics

Volume: 25, P: 160-165
Correction: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker
Julia Mayerle
André Reis
Amendments and Corrections01 Feb 2006
Nature Genetics

Volume: 38, P: 265
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

Marie-José H. van den Boogaard
Marinus Dorland
Hans Kristian Ploos van Amstel
Research01 Apr 2000
Nature Genetics

Volume: 24, P: 342-343
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome

Klara Flipsen-ten Berg
Peter M van Hasselt
Martin Poot
Research18 Jul 2007
European Journal of Human Genetics

Volume: 15, P: 1132-1138
Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation

Marieke J H Baars
Albert J J A Scherpbier
Leo P ten Kate
Research01 May 2005
Genetics in Medicine

Volume: 7, P: 295-301
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker
Julia Mayerle
André Reis
Research20 Nov 2005
Nature Genetics

Volume: 37, P: 1345-1350
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien P Hoornaert
Inge Vereecke
Geert R Mortier
Amendments and Corrections22 Jul 2010
European Journal of Human Genetics

Volume: 18, P: 881
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Frank Baas and colleagues report mutations in three of the four subunits of the tRNA-splicing endonuclease complex in families with two subtypes of pontocerebellar hypoplasia. The findings implicate tRNA processing in neurological disorders.

Birgit S Budde
Yasmin Namavar
Frank Baas
Research17 Aug 2008
Nature Genetics

Volume: 40, P: 1113-1118
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien P Hoornaert
Inge Vereecke
Geert R Mortier
Research24 Feb 2010
European Journal of Human Genetics

Volume: 18, P: 872-880
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation

Damayanti R Sjarif
Christina Hellerud
Bwee Tien Poll-The
Research17 Mar 2004
European Journal of Human Genetics

Volume: 12, P: 424-432
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT¹⁵⁸ Allele

Jacob A S Vorstman
Bruce I Turetsky
Chantal Kemner
Research03 Sept 2008
Neuropsychopharmacology

Volume: 34, P: 739-746