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Lance H Rodan

Showing results (51-60 of 76) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Pageof 8

Showing results (51-60 of 76) with videos related to

Sort By:
Pageof 8
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
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