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Christiane Zweier

Showing results (121-130 of 164) with videos related to

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HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Pageof 17

Showing results (121-130 of 164) with videos related to

Sort By:
Pageof 17
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Human Genetics|September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
Orphanet Journal of Rare Diseases|March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumUlrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Pageof 17