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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
European Journal of Human Genetics : EJHG
|
April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
Emma Hilton, Jennifer Johnston, Sandra Whalen, et al.
Nature Neuroscience
|
June 28, 2017
Corrigendum: A viral strategy for targeting and manipulating interneurons across vertebrate species
Jordane Dimidschstein, Qian Chen, Robin Tremblay, et al.
Nature Neuroscience
|
June 28, 2017
Addendum: A viral strategy for targeting and manipulating interneurons across vertebrate species
Jordane Dimidschstein, Qian Chen, Robin Tremblay, et al.
Annals of Neurology
|
June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Nature Neuroscience
|
November 8, 2016
A viral strategy for targeting and manipulating interneurons across vertebrate species
Jordane Dimidschstein, Qian Chen, Robin Tremblay, et al.
Nature Reviews. Neuroscience
|
February 7, 2013
New insights into the classification and nomenclature of cortical GABAergic interneurons
Javier DeFelipe, Pedro L López-Cruz, Ruth Benavides-Piccione, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variants
Sylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Nature Reviews. Genetics
|
July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Antonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Orphanet Journal of Rare Diseases
|
April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
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Search research articles
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Showing results (141-150 of 150) with videos related to
Sort By:
Page
of 15
You have reached the last page of results.
This site can display upto 150 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
European Journal of Human Genetics : EJHG
|
April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
Emma Hilton, Jennifer Johnston, Sandra Whalen, et al.
Nature Neuroscience
|
June 28, 2017
Corrigendum: A viral strategy for targeting and manipulating interneurons across vertebrate species
Jordane Dimidschstein, Qian Chen, Robin Tremblay, et al.
Nature Neuroscience
|
June 28, 2017
Addendum: A viral strategy for targeting and manipulating interneurons across vertebrate species
Jordane Dimidschstein, Qian Chen, Robin Tremblay, et al.
Annals of Neurology
|
June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.
Nature Neuroscience
|
November 8, 2016
A viral strategy for targeting and manipulating interneurons across vertebrate species
Jordane Dimidschstein, Qian Chen, Robin Tremblay, et al.
Nature Reviews. Neuroscience
|
February 7, 2013
New insights into the classification and nomenclature of cortical GABAergic interneurons
Javier DeFelipe, Pedro L López-Cruz, Ruth Benavides-Piccione, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variants
Sylvia Huisman, Paul A Mulder, Egbert Redeker, et al.
Nature Reviews. Genetics
|
July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Antonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Orphanet Journal of Rare Diseases
|
April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Page
of 15