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Christiane Zweier

Showing results (71-80 of 164) with videos related to

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Neuromuscular Disorders : NMD|December 14, 2007
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin Huehne, Christiane Zweier, Klaus Raab, et al.
Heart (British Cardiac Society)|October 13, 2010
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin, Ana Töpf, Elise Glen, et al.
European Journal of Human Genetics : EJHG|March 2, 2026
Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendationsJakica Ćavar Pavić, Noelle Cullinan, Marjolijn Jongmans, et al.
Nature Neuroscience|June 14, 2016
Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelinationLai Man Natalie Wu, Jincheng Wang, Andrea Conidi, et al.
Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.
Journal of Medical Genetics|October 5, 2013
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotypeChristiane Zweier, Cornelia Kraus, Louise Brueton, et al.
Biological Psychiatry|July 6, 2019
Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum DisordersMichaela Fenckova, Laura E R Blok, Lenke Asztalos, et al.
Journal of Medical Genetics|July 22, 2016
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrumMateja Smogavec, Alison Cleall, Juliane Hoyer, et al.
Journal of Personalized Medicine|June 27, 2024
<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandDennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, et al.
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
Pageof 17

Showing results (71-80 of 164) with videos related to

Sort By:
Pageof 17
Neuromuscular Disorders : NMD|December 14, 2007
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin Huehne, Christiane Zweier, Klaus Raab, et al.
Heart (British Cardiac Society)|October 13, 2010
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin, Ana Töpf, Elise Glen, et al.
European Journal of Human Genetics : EJHG|March 2, 2026
Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendationsJakica Ćavar Pavić, Noelle Cullinan, Marjolijn Jongmans, et al.
Nature Neuroscience|June 14, 2016
Zeb2 recruits HDAC-NuRD to inhibit Notch and controls Schwann cell differentiation and remyelinationLai Man Natalie Wu, Jincheng Wang, Andrea Conidi, et al.
Prenatal Diagnosis|September 10, 2019
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Georgia Vasileiou, Juliane Hoyer, Christian T Thiel, et al.
Journal of Medical Genetics|October 5, 2013
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotypeChristiane Zweier, Cornelia Kraus, Louise Brueton, et al.
Biological Psychiatry|July 6, 2019
Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum DisordersMichaela Fenckova, Laura E R Blok, Lenke Asztalos, et al.
Journal of Medical Genetics|July 22, 2016
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrumMateja Smogavec, Alison Cleall, Juliane Hoyer, et al.
Journal of Personalized Medicine|June 27, 2024
<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandDennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, et al.
Clinical Genetics|June 6, 2022
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6Céline B Gerber, Anna Fliedner, Oliver Bartsch, et al.
Pageof 17