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Ingo Helbig

Showing results (261-270 of 270) with videos related to

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Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Neurology. Genetics|November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, 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.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, 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 27

Showing results (261-270 of 270) with videos related to

Sort By:
Pageof 27
You have reached the last page of results.This site can display upto 270 results.
Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.
Neurology. Genetics|November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, 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.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
The Journal of Clinical Investigation|November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Qin Wang, Allan Bayat, et al.
Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, 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 27