UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 96

Sortiert nach

Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis

Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.123-123, Article 123

2023

Volltextzugriff (PDF)

The Ehlers–Danlos syndromes, rare types

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.70-115

2017

Volltextzugriff (PDF)

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Nature communications, 2016-07, Vol.7 (1), p.11920-11920, Article 11920

2016

Volltextzugriff (PDF)

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2011-03, Vol.88 (3), p.362-371

2011

Volltextzugriff (PDF)

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome

Proceedings of the National Academy of Sciences - PNAS, 2012-12, Vol.109 (51), p.E3530-E3538

2012

Volltextzugriff (PDF)

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Human mutation, 2012-02, Vol.33 (2), p.343-350

2012

Volltextzugriff (PDF)

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Clinical genetics, 2020-02, Vol.97 (2), p.235-245

2020

Volltextzugriff (PDF)

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

The Journal of biological chemistry, 2015-07, Vol.290 (29), p.17679-17689

2015

Volltextzugriff (PDF)

COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Clinical genetics, 2020-03, Vol.97 (3), p.396-406

2020

Volltextzugriff (PDF)

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

Frontiers in endocrinology (Lausanne), 2023-05, Vol.14, p.1195704-1195704

2023

Volltextzugriff (PDF)

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Genes, 2019-10, Vol.10 (11), p.843

2019

Volltextzugriff (PDF)

Revised recommendations for the management of Gaucher disease in children

European journal of pediatrics, 2013-04, Vol.172 (4), p.447-458

2013

Volltextzugriff (PDF)

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.46-46

2011

Volltextzugriff (PDF)

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Genetics in medicine, 2016-09, Vol.18 (9), p.882-891

2016

Volltextzugriff (PDF)

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1 - and FKBP14 -Kyphoscoliotic Ehlers-Danlos Syndrome

Genes, 2019-07, Vol.10 (7), p.517

2019

Volltextzugriff (PDF)

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Genes, 2021-01, Vol.12 (1), p.65

2021

Volltextzugriff (PDF)

Increased augmentation index in patients with Ehlers-Danlos syndrome

BMC cardiovascular disorders, 2020-09, Vol.20 (1), p.417-417, Article 417

2020

Volltextzugriff (PDF)

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.103-115

2016

Volltextzugriff (PDF)

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

Frontiers in genetics, 2021-05, Vol.12, p.662751-662751

2021

Volltextzugriff (PDF)

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.289-295

2013

Volltextzugriff (PDF)

Physiological cell bioprinting density in human bone-derived cell-laden scaffolds enhances matrix mineralization rate and stiffness under dynamic loading

Frontiers in bioengineering and biotechnology, 2024-02, Vol.12, p.1310289-1310289

2024

Volltextzugriff (PDF)

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100876-100876, Article 100876

2022

Volltextzugriff (PDF)

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.176-176, Article 176

2014

Volltextzugriff (PDF)

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children

Children (Basel), 2021-07, Vol.8 (8), p.624

2021

Volltextzugriff (PDF)

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Health and quality of life outcomes, 2012-09, Vol.10 (1), p.116-116

2012

Volltextzugriff (PDF)

1 – 25 von 96

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(86)
Mit Volltextzugriff
(91)

Publikationsform

Sprache

Englisch
(92)
Japanisch
(17)
Deutsch
(4)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis

The Ehlers–Danlos syndromes, rare types

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

Revised recommendations for the management of Gaucher disease in children

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1 - and FKBP14 -Kyphoscoliotic Ehlers-Danlos Syndrome

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Increased augmentation index in patients with Ehlers-Danlos syndrome

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Physiological cell bioprinting density in human bone-derived cell-laden scaffolds enhances matrix mineralization rate and stiffness under dynamic loading

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Suchergebnisse filtern