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Almuth Caliebe

Showing results (71-80 of 81) with videos related to

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Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Genome Medicine|September 17, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosisDaniel Kaschta, Christina Post, Franziska Gaass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Human Mutation|February 16, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsTimothy R Rebbeck, Tara M Friebel, Eitan Friedman, et al.
Cancer Research|November 15, 2019
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and AggressivenessVivek L Patel, Evan L Busch, Tara M Friebel, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Genome Medicine|September 17, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosisDaniel Kaschta, Christina Post, Franziska Gaass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Human Mutation|February 16, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsTimothy R Rebbeck, Tara M Friebel, Eitan Friedman, et al.
Cancer Research|November 15, 2019
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and AggressivenessVivek L Patel, Evan L Busch, Tara M Friebel, et al.
Pageof 9