UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 349

Sortiert nach

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

EMBO molecular medicine, 2020-10, Vol.12 (10), p.e12324-n/a

2020

Link zum Volltext

Verfügbarkeit prüfen

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Scientific reports, 2021-10, Vol.11 (1), p.19791-19791, Article 19791

2021

Link zum Volltext

Verfügbarkeit prüfen

Central conducting lymphatic anomaly: from bench to bedside

The Journal of clinical investigation, 2024-04, Vol.134 (8)

2024

Link zum Volltext

Verfügbarkeit prüfen

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1022-1028

2022

Link zum Volltext

Verfügbarkeit prüfen

Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1442-1446

2023

Link zum Volltext

Verfügbarkeit prüfen

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1058-1062

2019

Link zum Volltext

Verfügbarkeit prüfen

Segmental vasoconstricted patches with a border of telangiectasia

Pediatric dermatology, 2023-05, Vol.40 (3), p.565-567

2023

Link zum Volltext

Verfügbarkeit prüfen

Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1

Clinical genetics, 2021-05, Vol.99 (5), p.742-743

2021

Link zum Volltext

Verfügbarkeit prüfen

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

Developmental cell, 2015, Vol.32 (1), p.97-108

2015

Link zum Volltext

Verfügbarkeit prüfen

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

American journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2058-2069

2018

Link zum Volltext

Verfügbarkeit prüfen

The importance of patient‐specific resources for families dealing with prenatal rare diseases

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63450-n/a

2024

Link zum Volltext

Verfügbarkeit prüfen

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.566-570

2021

Link zum Volltext

Verfügbarkeit prüfen

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2374-2383

2021

Link zum Volltext

Verfügbarkeit prüfen

Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

European journal of human genetics : EJHG, 2022-06, Vol.30 (9), p.1094-1094

2022

Link zum Volltext

Verfügbarkeit prüfen

Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up

Journal of the American Medical Informatics Association : JAMIA, 2023-06, Vol.30 (7), p.1274-1283

2023

Link zum Volltext

Verfügbarkeit prüfen

P361: Complex lymphatic anomalies: Design of a prospective natural history study

Genetics in Medicine Open, 2023, Vol.1 (1), p.100389, Article 100389

2023

Link zum Volltext

Verfügbarkeit prüfen

P129: Development of a maternal-fetal questionnaire to aid in the improvement of prenatal care for lymphatic anomalies

Genetics in Medicine Open, 2023, Vol.1 (1), p.100158, Article 100158

2023

Link zum Volltext

Verfügbarkeit prüfen

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

American journal of human genetics, 2020-05, Vol.106 (5), p.623-631

2020

Link zum Volltext

Verfügbarkeit prüfen

Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly

Pediatric blood & cancer, 2023-09, Vol.70 (9), p.e30419-n/a

2023

Link zum Volltext

Verfügbarkeit prüfen

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Genetics in medicine, 2019-11, Vol.21 (11), p.2644-2649

2019

Link zum Volltext

Verfügbarkeit prüfen

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genetics in medicine, 2022-11, Vol.24 (11), p.2351-2366

2022

Link zum Volltext

Verfügbarkeit prüfen

Genetic skin disorders: The value of a multidisciplinary clinic

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1159-1167

2021

Link zum Volltext

Verfügbarkeit prüfen

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.64-69

2024

Link zum Volltext

Verfügbarkeit prüfen

Misdiagnosis of capillary malformations in darker skin phototypes

Pediatric dermatology, 2021-11, Vol.38 (S2), p.137-139

2021

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 349

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(319)
Mit Volltextzugriff
(306)

Publikationsform

3 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(6)

Menü

Weitere Dienste

Einstellungen

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

Central conducting lymphatic anomaly: from bench to bedside

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

Segmental vasoconstricted patches with a border of telangiectasia

Expanded phenotypic spectrum of JAG1‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

The importance of patient‐specific resources for families dealing with prenatal rare diseases

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up

P361: Complex lymphatic anomalies: Design of a prospective natural history study

P129: Development of a maternal-fetal questionnaire to aid in the improvement of prenatal care for lymphatic anomalies

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Genetic skin disorders: The value of a multidisciplinary clinic

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

Genomic profiling informs diagnoses and treatment in vascular anomalies

Misdiagnosis of capillary malformations in darker skin phototypes

Suchergebnisse filtern