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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
2023 - Forschungsinformationssystem des UKE
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE
Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
2020 - Forschungsinformationssystem des UKE
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
2020 - Forschungsinformationssystem des UKE
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
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
Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia
2020 - Forschungsinformationssystem des UKE
Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature
2020 - Forschungsinformationssystem des UKE
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
2019 - Forschungsinformationssystem des UKE
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
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
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome
2019 - Forschungsinformationssystem des UKE
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
2019 - Forschungsinformationssystem des UKE - frei zugänglich
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
2018 - Forschungsinformationssystem des UKE
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
2018 - Forschungsinformationssystem des UKE

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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa

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

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

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

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

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

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

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

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation