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Christine Fauth

Showing results (31-40 of 61) with videos related to

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Plos Biology|April 21, 2005
Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettesAndreas Bolzer, Gregor Kreth, Irina Solovei, et al.
American Journal of Medical Genetics. Part A|October 12, 2013
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22Anya Blassnig-Ezeh, Claude Bandelier, Anne Frühmesser, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|January 7, 2024
Gonadal and gonadosomatic mosaicism in NF1: report of two familiesMagdalena Seidl-Philipp, Nathalie Veyt, Simon Schnaiter, et al.
European Journal of Human Genetics : EJHG|February 21, 2013
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocationAnne Frühmesser, Jonathon Blake, Edda Haberlandt, et al.
Parkinsonism & Related Disorders|December 22, 2018
SYNE1-ataxia: Novel genotypic and phenotypic findingsElisabetta Indelicato, Wolfgang Nachbauer, Christine Fauth, et al.
Congenital Heart Disease|August 23, 2018
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon)Katharina Niedermayr, Gerhard Pölzl, Sabine Scholl-Bürgi, et al.
Annals of Human Genetics|May 22, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyBirgit Krabichler, Kevin Rostasy, Matthias Baumann, et al.
Clinical Genetics|October 10, 2018
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathyMatthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, et al.
Familial Cancer|August 31, 2016
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiencyKatharina Wimmer, Andreas Beilken, Rainer Nustede, et al.
European Journal of Human Genetics : EJHG|January 6, 2018
Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6Julia Taeubner, Katharina Wimmer, Martine Muleris, et al.
Pageof 7

Showing results (31-40 of 61) with videos related to

Sort By:
Pageof 7
Plos Biology|April 21, 2005
Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettesAndreas Bolzer, Gregor Kreth, Irina Solovei, et al.
American Journal of Medical Genetics. Part A|October 12, 2013
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22Anya Blassnig-Ezeh, Claude Bandelier, Anne Frühmesser, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|January 7, 2024
Gonadal and gonadosomatic mosaicism in NF1: report of two familiesMagdalena Seidl-Philipp, Nathalie Veyt, Simon Schnaiter, et al.
European Journal of Human Genetics : EJHG|February 21, 2013
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocationAnne Frühmesser, Jonathon Blake, Edda Haberlandt, et al.
Parkinsonism & Related Disorders|December 22, 2018
SYNE1-ataxia: Novel genotypic and phenotypic findingsElisabetta Indelicato, Wolfgang Nachbauer, Christine Fauth, et al.
Congenital Heart Disease|August 23, 2018
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon)Katharina Niedermayr, Gerhard Pölzl, Sabine Scholl-Bürgi, et al.
Annals of Human Genetics|May 22, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyBirgit Krabichler, Kevin Rostasy, Matthias Baumann, et al.
Clinical Genetics|October 10, 2018
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathyMatthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, et al.
Familial Cancer|August 31, 2016
A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiencyKatharina Wimmer, Andreas Beilken, Rainer Nustede, et al.
European Journal of Human Genetics : EJHG|January 6, 2018
Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6Julia Taeubner, Katharina Wimmer, Martine Muleris, et al.
Pageof 7