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Christiane Zweier

Showing results (101-110 of 164) with videos related to

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Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.
Molecular Cell|November 19, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Pageof 17

Showing results (101-110 of 164) with videos related to

Sort By:
Pageof 17
Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.
Molecular Cell|November 19, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Journal of Medical Genetics|August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAia Elise Jønch, Elise Douard, Clara Moreau, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Pageof 17