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Showing results (91-100 of 130) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, 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.
American Journal of Human Genetics|April 2, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
Pageof 13

Showing results (91-100 of 130) with videos related to

Sort By:
Pageof 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variantsYuri A Zarate, Tomoko Uehara, Kota Abe, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, 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.
American Journal of Human Genetics|April 2, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Journal of Medical Genetics|May 16, 2020
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like featuresDaphné Lehalle, Pierre Vabres, Arthur Sorlin, et al.
Pageof 13