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Stephan J Sanders

Showing results (81-90 of 154) with videos related to

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European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
American Journal of Human Genetics|May 23, 2024
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variantsDina Buitrago Silva, Marena Trinidad, Alicia Ljungdahl, et al.
Bioinformatics (Oxford, England)|December 7, 2023
Artificial intelligence-assisted quantification and assessment of whole slide images for pediatric kidney disease diagnosisChunyue Feng, Kokhaur Ong, David M Young, et al.
Human Molecular Genetics|August 26, 2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper, Chad A Shaw, Stephan J Sanders, et al.
Neuron|May 5, 2017
De Novo Coding Variants Are Strongly Associated with Tourette DisorderA Jeremy Willsey, Thomas V Fernandez, Dongmei Yu, et al.
Plos Genetics|January 27, 2015
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or ContactinsJohn D Murdoch, Abha R Gupta, Stephan J Sanders, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
The New England Journal of Medicine|October 7, 2020
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops FetalisTeresa N Sparks, Billie R Lianoglou, Rebecca R Adami, et al.
Nature Genetics|March 22, 2016
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general populationElise B Robinson, Beate St Pourcain, Verneri Anttila, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Pageof 16

Showing results (81-90 of 154) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
American Journal of Human Genetics|May 23, 2024
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variantsDina Buitrago Silva, Marena Trinidad, Alicia Ljungdahl, et al.
Bioinformatics (Oxford, England)|December 7, 2023
Artificial intelligence-assisted quantification and assessment of whole slide images for pediatric kidney disease diagnosisChunyue Feng, Kokhaur Ong, David M Young, et al.
Human Molecular Genetics|August 26, 2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper, Chad A Shaw, Stephan J Sanders, et al.
Neuron|May 5, 2017
De Novo Coding Variants Are Strongly Associated with Tourette DisorderA Jeremy Willsey, Thomas V Fernandez, Dongmei Yu, et al.
Plos Genetics|January 27, 2015
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or ContactinsJohn D Murdoch, Abha R Gupta, Stephan J Sanders, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
The New England Journal of Medicine|October 7, 2020
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops FetalisTeresa N Sparks, Billie R Lianoglou, Rebecca R Adami, et al.
Nature Genetics|March 22, 2016
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general populationElise B Robinson, Beate St Pourcain, Verneri Anttila, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Pageof 16