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46 Einträge gefunden

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
2023 - Forschungsinformationssystem des UKE
Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
2022 - Forschungsinformationssystem des UKE
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
2022 - Forschungsinformationssystem des UKE - frei zugänglich
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
2021 - Forschungsinformationssystem des UKE - frei zugänglich
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
2020 - Forschungsinformationssystem des UKE
Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia
2019 - Forschungsinformationssystem des UKE - frei zugänglich
Genetisch bedingte Syndrome mit Zeichen einer vorzeitigen Alterung, Hereditary Syndromes with Signs of Premature Aging
1. Lessel, Davor
2. Kubisch, Christian
2019 - Forschungsinformationssystem des UKE
Comprehensive analysis of the mutation spectrum in 301 German ALS families
2018 - Forschungsinformationssystem des UKE
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
2018 - Forschungsinformationssystem des UKE
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
2018 - Forschungsinformationssystem des UKE - frei zugänglich
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
2018 - Forschungsinformationssystem des UKE
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
2017 - Forschungsinformationssystem des UKE
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
2017 - Forschungsinformationssystem des UKE
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
2017 - Forschungsinformationssystem des UKE
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
2017 - Forschungsinformationssystem des UKE
The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
1. Volk, Alexander E
2. Kubisch, Christian
2017 - Forschungsinformationssystem des UKE

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A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

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

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

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

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia

Genetisch bedingte Syndrome mit Zeichen einer vorzeitigen Alterung, Hereditary Syndromes with Signs of Premature Aging

Comprehensive analysis of the mutation spectrum in 301 German ALS families

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases