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Neuropediatrics
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December 12, 2024
Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder
Charlotte Mouraux, Serpil Alkan, Jean-Hubert Caberg, et al.
CNS Drugs
|
July 14, 2026
Emerging Therapies for Angelman Syndrome
Cyril Tychon, Theodora Markati, Serpil Alkan, et al.
JPGN Reports
|
May 11, 2026
Infantile exocrine pancreatic insufficiency due to a homozygous <i>SPINK1</i> pathogenic variant in two siblings: A case report
France Chalon, Angélique Lhomme, Marie Léonard, et al.
Molecular Autism
|
February 27, 2025
Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice
Andreea D Pantiru, Stijn Van de Sompele, Clemence Ligneul, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, et al.
Frontiers in Genetics
|
December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN <i>in-silico</i> structural analysis
Davide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Neuropediatrics
|
December 12, 2024
Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder
Charlotte Mouraux, Serpil Alkan, Jean-Hubert Caberg, et al.
CNS Drugs
|
July 14, 2026
Emerging Therapies for Angelman Syndrome
Cyril Tychon, Theodora Markati, Serpil Alkan, et al.
JPGN Reports
|
May 11, 2026
Infantile exocrine pancreatic insufficiency due to a homozygous <i>SPINK1</i> pathogenic variant in two siblings: A case report
France Chalon, Angélique Lhomme, Marie Léonard, et al.
Molecular Autism
|
February 27, 2025
Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice
Andreea D Pantiru, Stijn Van de Sompele, Clemence Ligneul, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours
Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, et al.
Frontiers in Genetics
|
December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN <i>in-silico</i> structural analysis
Davide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.
Page
of 1