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Peter Miny

Showing results (21-30 of 41) with videos related to

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Cellular Reprogramming|May 10, 2014
Gene expression profiles of similarly derived human embryonic stem cell lines correlate with their distinct propensity to exit stemness and their different differentiation behavior in cultureOliver Sterthaus, Anne-Catherine Feutz, Hong Zhang, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation familyIsabel Filges, Benno Röthlisberger, Christoph Noppen, et al.
Journal of Medical Genetics|November 2, 2010
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndromeIsabel Filges, Keiko Shimojima, Nobuhiko Okamoto, et al.
Prenatal Diagnosis|May 10, 2006
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicismSylvie Langlois, Paul J Yong, Siu Li Yong, et al.
Clinical Dysmorphology|December 1, 2011
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disabilityJan A Sidler, Isabel Filges, Nemya Boesch, et al.
Pediatrics|January 11, 2012
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, et al.
Genes|December 23, 2022
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal AnomaliesSeher Basaran, Recep Has, Ibrahim Halil Kalelioglu, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveriesNicole Meier, Elisabeth Bruder, Olav Lapaire, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Gene|January 14, 2012
High resolution array in the clinical approach to chromosomal phenotypesIsabel Filges, Luzia Suda, Peter Weber, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Cellular Reprogramming|May 10, 2014
Gene expression profiles of similarly derived human embryonic stem cell lines correlate with their distinct propensity to exit stemness and their different differentiation behavior in cultureOliver Sterthaus, Anne-Catherine Feutz, Hong Zhang, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation familyIsabel Filges, Benno Röthlisberger, Christoph Noppen, et al.
Journal of Medical Genetics|November 2, 2010
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndromeIsabel Filges, Keiko Shimojima, Nobuhiko Okamoto, et al.
Prenatal Diagnosis|May 10, 2006
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicismSylvie Langlois, Paul J Yong, Siu Li Yong, et al.
Clinical Dysmorphology|December 1, 2011
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disabilityJan A Sidler, Isabel Filges, Nemya Boesch, et al.
Pediatrics|January 11, 2012
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4Isabel Filges, Andrea Bischof-Renner, Benno Röthlisberger, et al.
Genes|December 23, 2022
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal AnomaliesSeher Basaran, Recep Has, Ibrahim Halil Kalelioglu, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveriesNicole Meier, Elisabeth Bruder, Olav Lapaire, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Gene|January 14, 2012
High resolution array in the clinical approach to chromosomal phenotypesIsabel Filges, Luzia Suda, Peter Weber, et al.
Pageof 5