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37 Einträge gefunden

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Werner syndrome in a Lebanese family
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation
2022 - 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
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Germline AGO2 mutations impair RNA interference and human neurological development
2020 - Forschungsinformationssystem des UKE
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
2020 - Forschungsinformationssystem des UKE
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability
2020 - Forschungsinformationssystem des UKE
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
2020 - Forschungsinformationssystem des UKE
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
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
SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication
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
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
2018 - Forschungsinformationssystem des UKE
Recessive mutations in >VPS13D cause childhood-onset movement disorders
2018 - Forschungsinformationssystem des UKE
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
2018 - Forschungsinformationssystem des UKE - frei zugänglich
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
2018 - Forschungsinformationssystem des UKE
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
2018 - Forschungsinformationssystem des UKE

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

Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer

Werner syndrome in a Lebanese family

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation

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

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

Germline AGO2 mutations impair RNA interference and human neurological development

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

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

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

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication

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

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

Recessive mutations in >VPS13D cause childhood-onset movement disorders

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

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations