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Himanshu Goel

Showing results (81-90 of 121) with videos related to

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Nature Communications|June 3, 2026
Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopmentLisa Hamerlinck, Eva D'haene, Michael B Vaughan, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Journal of Medical Genetics|November 11, 2022
<i>OTX2</i> duplications: a recurrent cause of oculo-auriculo-vertebral spectrumTristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.
Kidney International|July 8, 2020
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney diseaseVinh T Huynh, Marie-Pierre Audrézet, John A Sayer, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Molecular Psychiatry|January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Pageof 13

Showing results (81-90 of 121) with videos related to

Sort By:
Pageof 13
Nature Communications|June 3, 2026
Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopmentLisa Hamerlinck, Eva D'haene, Michael B Vaughan, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
Journal of Medical Genetics|November 3, 2022
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i>Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, et al.
Journal of Medical Genetics|November 11, 2022
<i>OTX2</i> duplications: a recurrent cause of oculo-auriculo-vertebral spectrumTristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, et al.
Kidney International|July 8, 2020
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney diseaseVinh T Huynh, Marie-Pierre Audrézet, John A Sayer, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
Molecular Psychiatry|September 18, 2022
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Molecular Psychiatry|January 19, 2023
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentAntony Kaspi, Michael S Hildebrand, Victoria E Jackson, et al.
Pageof 13