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29 Einträge gefunden

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
2021 - Forschungsinformationssystem des UKE
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020 - Forschungsinformationssystem des UKE
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
2020 - Forschungsinformationssystem des UKE
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
2020 - Forschungsinformationssystem des UKE
Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia
2020 - Forschungsinformationssystem des UKE
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
2020 - Forschungsinformationssystem des UKE
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
2020 - Forschungsinformationssystem des UKE
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
2019 - Forschungsinformationssystem des UKE
Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
2019 - Forschungsinformationssystem des UKE
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome
2019 - Forschungsinformationssystem des UKE
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
2018 - Forschungsinformationssystem des UKE
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
2018 - Forschungsinformationssystem des UKE
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
2018 - Forschungsinformationssystem des UKE
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
2017 - Forschungsinformationssystem des UKE
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
2017 - Forschungsinformationssystem des UKE
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
2016 - Forschungsinformationssystem des UKE
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis
2016 - Forschungsinformationssystem des UKE
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
2015 - Forschungsinformationssystem des UKE - frei zugänglich

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

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

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

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants

Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor