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Nature Genetics
|
April 12, 2005
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Hans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, et al.
Journal of Genetic Counseling
|
November 5, 2015
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Aisha S Sie, Liesbeth Spruijt, Wendy A G van Zelst-Stams, et al.
Pediatric Neurology
|
August 11, 2004
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients
Bert van der Zwaag, Harriette T F M Verzijl, Karin H Wichers, et al.
Communications Biology
|
July 1, 2026
Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects
Dinu Antony, Elif Yilmaz Güleç, Anna Klawonn, et al.
American Journal of Human Genetics
|
October 23, 2008
Recurrent CNVs disrupt three candidate genes in schizophrenia patients
Terry Vrijenhoek, Jacobine E Buizer-Voskamp, Inge van der Stelt, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2018
1 in 38 individuals at risk of a dominant medically actionable disease
Lonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, et al.
Orphanet Journal of Rare Diseases
|
September 19, 2015
Meier-Gorlin syndrome
Sonja A de Munnik, Elisabeth H Hoefsloot, Jolt Roukema, et al.
European Journal of Human Genetics : EJHG
|
August 17, 2006
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes
Caroline B Michielse, Meena Bhat, Angela Brady, et al.
Human Mutation
|
April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists
|
November 2, 2002
PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis
Bert van der Zwaag, Anita J C G M Hellemons, William P J Leenders, et al.
Page
of 32
Search research articles
Search
Showing results (61-70 of 318) with videos related to
Sort By:
Page
of 32
Nature Genetics
|
April 12, 2005
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
Hans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, et al.
Journal of Genetic Counseling
|
November 5, 2015
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Aisha S Sie, Liesbeth Spruijt, Wendy A G van Zelst-Stams, et al.
Pediatric Neurology
|
August 11, 2004
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients
Bert van der Zwaag, Harriette T F M Verzijl, Karin H Wichers, et al.
Communications Biology
|
July 1, 2026
Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects
Dinu Antony, Elif Yilmaz Güleç, Anna Klawonn, et al.
American Journal of Human Genetics
|
October 23, 2008
Recurrent CNVs disrupt three candidate genes in schizophrenia patients
Terry Vrijenhoek, Jacobine E Buizer-Voskamp, Inge van der Stelt, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2018
1 in 38 individuals at risk of a dominant medically actionable disease
Lonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, et al.
Orphanet Journal of Rare Diseases
|
September 19, 2015
Meier-Gorlin syndrome
Sonja A de Munnik, Elisabeth H Hoefsloot, Jolt Roukema, et al.
European Journal of Human Genetics : EJHG
|
August 17, 2006
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes
Caroline B Michielse, Meena Bhat, Angela Brady, et al.
Human Mutation
|
April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists
|
November 2, 2002
PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis
Bert van der Zwaag, Anita J C G M Hellemons, William P J Leenders, et al.
Page
of 32