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Ingrid E Scheffer

Showing results (581-590 of 586) with videos related to

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American Journal of Human Genetics|March 9, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 59

Showing results (581-590 of 586) with videos related to

Sort By:
Pageof 59
You have reached the last page of results.This site can display upto 586 results.
American Journal of Human Genetics|March 9, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 59