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Han G Brunner

Showing results (291-300 of 318) with videos related to

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Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.
American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
Pageof 32

Showing results (291-300 of 318) with videos related to

Sort By:
Pageof 32
Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.
American Journal of Human Genetics|April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human NeuronsScott Bell, Justine Rousseau, Huashan Peng, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Nature Communications|February 17, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Nature Communications|November 7, 2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
Pageof 32