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21 Einträge gefunden

The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature
2022 - Forschungsinformationssystem des UKE
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
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
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE
Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort
2021 - Forschungsinformationssystem des UKE - frei zugänglich
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
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
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
2020 - Forschungsinformationssystem des UKE - frei zugänglich
The microdeletion syndrome 20q11–q12:Case report on a rare but recurrent microdeletion syndrome, Das Mikrodeletionssyndrom 20q11–q12:Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
2020 - Forschungsinformationssystem des UKE - frei zugänglich
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
2020 - Forschungsinformationssystem des UKE
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
2019 - Forschungsinformationssystem des UKE - frei zugänglich
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
2019 - Forschungsinformationssystem des UKE
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
2019 - 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
Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
2019 - Forschungsinformationssystem des UKE
Dual antibody induction and de novo use of everolimus enable low-dose tacrolimus with early corticosteroid withdrawal in simultaneous pancreas-kidney transplantation
2018 - Forschungsinformationssystem des UKE
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
2018 - Forschungsinformationssystem des UKE
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
2018 - Forschungsinformationssystem des UKE
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
2017 - Forschungsinformationssystem des UKE

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

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

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

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

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

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

The microdeletion syndrome 20q11–q12:Case report on a rare but recurrent microdeletion syndrome, Das Mikrodeletionssyndrom 20q11–q12:Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom

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

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

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

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

Dual antibody induction and de novo use of everolimus enable low-dose tacrolimus with early corticosteroid withdrawal in simultaneous pancreas-kidney transplantation

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

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

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