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Christine Fauth

Showing results (11-20 of 61) with videos related to

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American Journal of Medical Genetics. Part A|May 12, 2005
Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girlDieter Kotzot, Edda Haberlandt, Christine Fauth, et al.
Neuropediatrics|January 14, 2016
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the ClueMarkus Rauchenzauner, Martin Frühwirth, Martin Hecht, et al.
Journal of Dermatological Science|February 13, 2010
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosisRobert Gruber, Andreas R Janecke, Daniela Grabher, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibsSheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.
European Journal of Human Genetics : EJHG|December 14, 2006
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgarisRobert Gruber, Andreas R Janecke, Christine Fauth, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
Inherited ichthyoses/generalized Mendelian disorders of cornificationMatthias Schmuth, Verena Martinz, Andreas R Janecke, et al.
Gene|August 12, 2014
Genotype-based databases for variants causing rare diseasesBarbara Lanthaler, Stefanie Wieser, Andrea Deutschmann, et al.
Fertility and Sterility|August 9, 2008
Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variantMartina Höckner, Germar-Michael Pinggera, Barbara Günther, et al.
Neuropediatrics|April 5, 2012
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiencyJohannes A Mayr, Johannes Koch, Christine Fauth, et al.
European Journal of Medical Genetics|April 24, 2013
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphismAnne Frühmesser, Martin Erdel, Hans-Christoph Duba, et al.
Pageof 7

Showing results (11-20 of 61) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|May 12, 2005
Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girlDieter Kotzot, Edda Haberlandt, Christine Fauth, et al.
Neuropediatrics|January 14, 2016
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the ClueMarkus Rauchenzauner, Martin Frühwirth, Martin Hecht, et al.
Journal of Dermatological Science|February 13, 2010
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosisRobert Gruber, Andreas R Janecke, Daniela Grabher, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibsSheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, et al.
European Journal of Human Genetics : EJHG|December 14, 2006
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgarisRobert Gruber, Andreas R Janecke, Christine Fauth, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
Inherited ichthyoses/generalized Mendelian disorders of cornificationMatthias Schmuth, Verena Martinz, Andreas R Janecke, et al.
Gene|August 12, 2014
Genotype-based databases for variants causing rare diseasesBarbara Lanthaler, Stefanie Wieser, Andrea Deutschmann, et al.
Fertility and Sterility|August 9, 2008
Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variantMartina Höckner, Germar-Michael Pinggera, Barbara Günther, et al.
Neuropediatrics|April 5, 2012
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiencyJohannes A Mayr, Johannes Koch, Christine Fauth, et al.
European Journal of Medical Genetics|April 24, 2013
Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphismAnne Frühmesser, Martin Erdel, Hans-Christoph Duba, et al.
Pageof 7