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Pediatric Neurology
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June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
Brain : a Journal of Neurology
|
July 31, 2016
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
Cyril Mignot, Marie-Laure Moutard, Agnès Rastetter, et al.
Brain : a Journal of Neurology
|
April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Snezana Maljevic, Boris Keren, Ye Htet Aung, et al.
Journal of the Neurological Sciences
|
August 15, 2018
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
Anne Koy, Sebahattin Cirak, Victoria Gonzalez, et al.
Amino Acids
|
July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
Caroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Parkinsonism & Related Disorders
|
April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Orphanet Journal of Rare Diseases
|
December 16, 2014
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, et al.
Clinical Genetics
|
July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
Minna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
American Journal of Human Genetics
|
March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Susan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
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of 24
Search research articles
Search
Showing results (61-70 of 236) with videos related to
Sort By:
Page
of 24
Pediatric Neurology
|
June 27, 2024
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, et al.
Brain : a Journal of Neurology
|
July 31, 2016
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
Cyril Mignot, Marie-Laure Moutard, Agnès Rastetter, et al.
Brain : a Journal of Neurology
|
April 30, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Snezana Maljevic, Boris Keren, Ye Htet Aung, et al.
Journal of the Neurological Sciences
|
August 15, 2018
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
Anne Koy, Sebahattin Cirak, Victoria Gonzalez, et al.
Amino Acids
|
July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
Caroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Parkinsonism & Related Disorders
|
April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Orphanet Journal of Rare Diseases
|
December 16, 2014
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, et al.
Clinical Genetics
|
July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
Minna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
American Journal of Human Genetics
|
March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Susan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
Page
of 24