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Denise Horn

Showing results (1-10 of 166) with videos related to

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American Journal of Medical Genetics. Part A|May 20, 2011
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 geneDenise Horn, Peter N Robinson
European Journal of Medical Genetics|January 19, 2010
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndromeDenise Horn, Gudrun Schottmann, Peter Meinecke
American Journal of Medical Genetics. Part A|March 15, 2006
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotypeChristiane Zweier, Denise Horn, Cornelia Kraus, et al.
Archives of Gynecology and Obstetrics|October 11, 2021
Differential diagnosis of syndromic craniosynostosis: a case seriesTamara Casteleyn, Denise Horn, Wolfgang Henrich, et al.
American Journal of Medical Genetics|September 20, 2002
Pigmentary mosaicism of the hyperpigmented type in two half-brothersDenise Horn, Rudolf Happle, Heidemarie Neitzel, et al.
American Journal of Human Genetics|March 29, 2008
Walking the interactome for prioritization of candidate disease genesSebastian Köhler, Sebastian Bauer, Denise Horn, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutationMagdalena Danyel, Fanny Kortüm, Katarina Dathe, et al.
The Journal of Pediatrics|June 30, 2009
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphismKristina Jülich, Denise Horn, Peter Burfeind, et al.
American Journal of Medical Genetics|September 5, 2002
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndromeJoachim Bürger, Denise Horn, Holger Tönnies, et al.
American Journal of Medical Genetics. Part A|April 6, 2006
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasiaMartin Zenker, Lutz Nährlich, Heinrich Sticht, et al.
Pageof 17

Showing results (1-10 of 166) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|May 20, 2011
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 geneDenise Horn, Peter N Robinson
European Journal of Medical Genetics|January 19, 2010
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndromeDenise Horn, Gudrun Schottmann, Peter Meinecke
American Journal of Medical Genetics. Part A|March 15, 2006
Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotypeChristiane Zweier, Denise Horn, Cornelia Kraus, et al.
Archives of Gynecology and Obstetrics|October 11, 2021
Differential diagnosis of syndromic craniosynostosis: a case seriesTamara Casteleyn, Denise Horn, Wolfgang Henrich, et al.
American Journal of Medical Genetics|September 20, 2002
Pigmentary mosaicism of the hyperpigmented type in two half-brothersDenise Horn, Rudolf Happle, Heidemarie Neitzel, et al.
American Journal of Human Genetics|March 29, 2008
Walking the interactome for prioritization of candidate disease genesSebastian Köhler, Sebastian Bauer, Denise Horn, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutationMagdalena Danyel, Fanny Kortüm, Katarina Dathe, et al.
The Journal of Pediatrics|June 30, 2009
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphismKristina Jülich, Denise Horn, Peter Burfeind, et al.
American Journal of Medical Genetics|September 5, 2002
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndromeJoachim Bürger, Denise Horn, Holger Tönnies, et al.
American Journal of Medical Genetics. Part A|April 6, 2006
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasiaMartin Zenker, Lutz Nährlich, Heinrich Sticht, et al.
Pageof 17