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36 Einträge gefunden

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
2023 - Forschungsinformationssystem des UKE
Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich
The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature
2022 - Forschungsinformationssystem des UKE
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
2022 - Forschungsinformationssystem des UKE
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Hirschsprung Disease - Clinical Relevance of RET Mutations
2021 - Forschungsinformationssystem des UKE
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 - Forschungsinformationssystem des UKE - frei zugänglich
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
2021 - Forschungsinformationssystem des UKE
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
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
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
2020 - Forschungsinformationssystem des UKE
POLR3A variants with striatal involvement and extrapyramidal movement disorder
2020 - Forschungsinformationssystem des UKE
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
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
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
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
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
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
2019 - Forschungsinformationssystem des UKE

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

Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype

The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

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

Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report

Hirschsprung Disease - Clinical Relevance of RET Mutations

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

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

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

POLR3A variants with striatal involvement and extrapyramidal movement disorder

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

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

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

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

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

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis