Suchergebnis | Hamburg Open Science

Facetten

26 Einträge gefunden

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
2023 - Forschungsinformationssystem des UKE
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 - Forschungsinformationssystem des UKE
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
2021 - Forschungsinformationssystem des UKE - frei zugänglich
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
2021 - Forschungsinformationssystem des UKE
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
2021 - Forschungsinformationssystem des UKE
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
2021 - Forschungsinformationssystem des UKE - frei zugänglich
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 - Forschungsinformationssystem des UKE - frei zugänglich
POLR3A variants with striatal involvement and extrapyramidal movement disorder
2020 - Forschungsinformationssystem des UKE
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
2020 - Forschungsinformationssystem des UKE
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
2020 - Forschungsinformationssystem des UKE
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
2020 - Forschungsinformationssystem des UKE
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
2020 - Forschungsinformationssystem des UKE
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
2019 - Forschungsinformationssystem des UKE
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
2019 - Forschungsinformationssystem des UKE
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
2019 - Forschungsinformationssystem des UKE
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
2019 - Forschungsinformationssystem des UKE
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich

Aktive Facetten

Facetten

Zugriff

Einrichtung

Medientyp

Karte

Erscheinungsjahr

Autor/in

Sprache

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

POLR3A variants with striatal involvement and extrapyramidal movement disorder

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation