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Oliver Bartsch

Showing results (41-50 of 118) with videos related to

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Gene|September 24, 2013
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosisJohannes Follmann, Doris Macchiella, Catharina Whybra, et al.
American Journal of Medical Genetics. Part A|November 1, 2014
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutationsLuzie Bülow, Christina Lissewski, Rainer Bressel, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndromeOliver Bartsch, Janette Labonté, Beate Albrecht, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
Rubinstein-Taybi syndrome (CREBBP, EP300)Martine van Belzen, Oliver Bartsch, Didier Lacombe, et al.
Clinical Oral Investigations|February 3, 2012
The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genesThomas Ziebart, Florian G Draenert, Danuta Galetzka, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3Denise Horn, Holger Tönnies, Heidemarie Neitzel, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorderJennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, et al.
Clinical Dysmorphology|December 1, 2005
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular faceThomas Eggermann, Ines Krause-Plonka, Hartmut A Wollmann, et al.
European Journal of Human Genetics : EJHG|February 12, 2004
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts, Gerard Waeber, Peter Meinecke, et al.
Pageof 12

Showing results (41-50 of 118) with videos related to

Sort By:
Pageof 12
Gene|September 24, 2013
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosisJohannes Follmann, Doris Macchiella, Catharina Whybra, et al.
American Journal of Medical Genetics. Part A|November 1, 2014
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutationsLuzie Bülow, Christina Lissewski, Rainer Bressel, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndromeOliver Bartsch, Janette Labonté, Beate Albrecht, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
Rubinstein-Taybi syndrome (CREBBP, EP300)Martine van Belzen, Oliver Bartsch, Didier Lacombe, et al.
Clinical Oral Investigations|February 3, 2012
The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genesThomas Ziebart, Florian G Draenert, Danuta Galetzka, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3Denise Horn, Holger Tönnies, Heidemarie Neitzel, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorderJennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, et al.
Clinical Dysmorphology|December 1, 2005
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular faceThomas Eggermann, Ines Krause-Plonka, Hartmut A Wollmann, et al.
European Journal of Human Genetics : EJHG|February 12, 2004
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts, Gerard Waeber, Peter Meinecke, et al.
Pageof 12