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Lance H Rodan

Showing results (41-50 of 76) with videos related to

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American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
American Journal of Human Genetics|November 4, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
Brain : a Journal of Neurology|April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresSnezana Maljevic, Boris Keren, Ye Htet Aung, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Clinical Genetics|July 2, 2021
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrumElizabeth E Palmer, Chloe Whitton, Mais O Hashem, et al.
Annals of Neurology|February 11, 2026
Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer E Neil, Shyam K Akula, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Pageof 8

Showing results (41-50 of 76) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
American Journal of Human Genetics|November 4, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.
Brain : a Journal of Neurology|April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresSnezana Maljevic, Boris Keren, Ye Htet Aung, et al.
European Journal of Human Genetics : EJHG|March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndromeRyan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Clinical Genetics|July 2, 2021
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrumElizabeth E Palmer, Chloe Whitton, Mais O Hashem, et al.
Annals of Neurology|February 11, 2026
Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer E Neil, Shyam K Akula, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Pageof 8