UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 170

Sortiert nach

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

Nature communications, 2019-01, Vol.10 (1), p.127-127, Article 127

2019

Volltextzugriff (PDF)

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Calcified tissue international, 2020-09, Vol.107 (3), p.294-299

2020

Volltextzugriff (PDF)

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Science translational medicine, 2014-09, Vol.6 (252), p.252ra123

2014

Volltextzugriff (PDF)

Lysosomal Pathology and Osteopetrosis upon Loss of H⁺-Driven Lysosomal Cl⁻ Accumulation

Science (American Association for the Advancement of Science), 2010-06, Vol.328 (5984), p.1401-1403

2010

Volltextzugriff (PDF)

Humangenetische Zeitenwende in der Osteologie

Medizinische Genetik, 2019, Vol.31 (4), p.355-356

2019

Volltextzugriff (PDF)

Monogene frühmanifeste Osteoporose und Altersosteoporose – ein Kontinuum

Medizinische Genetik, 2019, Vol.31 (4), p.383-390

2019

Volltextzugriff (PDF)

Inactivation of anoctamin‐6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues

Journal of bone and mineral research, 2013-02, Vol.28 (2), p.246-259

2013

Volltextzugriff (PDF)

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

Calcified tissue international, 2018-11, Vol.103 (5), p.512-521

2018

Volltextzugriff (PDF)

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

Human mutation, 2019-01, Vol.40 (1), p.106-114

2019

Volltextzugriff (PDF)

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica

PLoS genetics, 2018-03, Vol.14 (3), p.e1007242-e1007242

2018

Volltextzugriff (PDF)

Genetic Disorders of the Skeleton: A Developmental Approach

American journal of human genetics, 2003-09, Vol.73 (3), p.447-474

2003

Volltextzugriff (PDF)

Response to "Letter to the editor"

Bone (New York, N.Y.), 2019-11, Vol.128, p.115065-115065, Article 115065

Kornak, Uwe

2019

Volltextzugriff (PDF)

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Journal of human genetics, 2019-07, Vol.64 (7), p.609-616

2019

Volltextzugriff (PDF)

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Human genetics, 2021-10, Vol.140 (10), p.1459-1469

2021

Volltextzugriff (PDF)

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Nature genetics, 2008-01, Vol.40 (1), p.32-34

2008

Volltextzugriff (PDF)

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

European journal of human genetics : EJHG, 2009-09, Vol.17 (9), p.1097-1098

Kornak, Uwe

2009

Volltextzugriff (PDF)

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation

PloS one, 2018-06, Vol.13 (6), p.e0198510-e0198510

2018

Volltextzugriff (PDF)

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2534-2538

2017

Volltextzugriff (PDF)

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome

Journal of human genetics, 2019-09, Vol.64 (9), p.867-873

2019

Volltextzugriff (PDF)

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (2)

2021

Volltextzugriff (PDF)

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

The EMBO journal, 2005-03, Vol.24 (5), p.1079-1091

2005

Volltextzugriff (PDF)

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

BMC genomics, 2019-01, Vol.20 (1), p.40-40, Article 40

2019

Volltextzugriff (PDF)

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

Nature medicine, 2009-06, Vol.15 (6), p.674-681

2009

Volltextzugriff (PDF)

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes

Frontiers in cell and developmental biology, 2021-04, Vol.9, p.622287-622287

2021

Volltextzugriff (PDF)

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.972-986

2021

Volltextzugriff (PDF)

1 – 25 von 170

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(167)
Mit Volltextzugriff
(161)

Publikationsform

Artikel
(168)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Lysosomal Pathology and Osteopetrosis upon Loss of H⁺-Driven Lysosomal Cl⁻ Accumulation

Humangenetische Zeitenwende in der Osteologie

Monogene frühmanifeste Osteoporose und Altersosteoporose – ein Kontinuum

Inactivation of anoctamin‐6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica

Genetic Disorders of the Skeleton: A Developmental Approach

Response to "Letter to the editor"

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities

Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Suchergebnisse filtern