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Human Genetics
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July 8, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, et al.
European Journal of Human Genetics : EJHG
|
March 6, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, et al.
Journal of Medical Genetics
|
December 16, 2020
Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Lisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
HGG Advances
|
May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Human Mutation
|
May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Marcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
European Journal of Human Genetics : EJHG
|
December 31, 2024
RICTOR variants are associated with neurodevelopmental disorders
Raphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Brain : a Journal of Neurology
|
August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Brain : a Journal of Neurology
|
August 18, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, et al.
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Search research articles
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Showing results (11-20 of 26) with videos related to
Sort By:
Page
of 3
Human Genetics
|
July 8, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndrome
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, et al.
European Journal of Human Genetics : EJHG
|
March 6, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, et al.
Journal of Medical Genetics
|
December 16, 2020
Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Lisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
HGG Advances
|
May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
Slavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Human Mutation
|
May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Marcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
European Journal of Human Genetics : EJHG
|
December 31, 2024
RICTOR variants are associated with neurodevelopmental disorders
Raphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Brain : a Journal of Neurology
|
August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Brain : a Journal of Neurology
|
August 18, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, et al.
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of 3