UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years

Annual review of genomics and human genetics, 2019-08, Vol.20 (1), p.1-19

Temtamy, Samia A

2019

Volltextzugriff (PDF)

Brachydactyly

Orphanet journal of rare diseases, 2008-06, Vol.3 (1), p.15-15, Article 15

2008

Volltextzugriff (PDF)

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Bone Research, 2021-08, Vol.9 (1), p.39-39, Article 39

2021

Volltextzugriff (PDF)

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study

Lancet neurology, 2013-12, Vol.12 (12), p.1159-1169

2013

Volltextzugriff (PDF)

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

Disease models & mechanisms, 2019-06, Vol.12 (6)

2019

Volltextzugriff (PDF)

Mutations in WNT1 Cause Different Forms of Bone Fragility

American journal of human genetics, 2013-04, Vol.92 (4), p.565-574

2013

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)

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

Journal of proteomics, 2017-09, Vol.167, p.46-59

2017

Volltextzugriff (PDF)

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.598-604

2013

Volltextzugriff (PDF)

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Genetics in medicine, 2021-04, Vol.23 (4), p.679-688

2021

Volltextzugriff (PDF)

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome

European journal of medical genetics, 2022-01, Vol.65 (1), p.104377-104377, Article 104377

2022

Volltextzugriff (PDF)

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

American journal of human genetics, 2010-05, Vol.86 (5), p.696-706

2010

Volltextzugriff (PDF)

Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3284-3286

2021

Volltextzugriff (PDF)

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

American journal of human genetics, 2009-06, Vol.84 (6), p.801-806

2009

Volltextzugriff (PDF)

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia

American journal of medical genetics. Part A, 2023-09, Vol.191 (9), p.2329-2336

2023

Volltextzugriff (PDF)

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Human mutation, 2012-10, Vol.33 (10), p.1444-1449

2012

Volltextzugriff (PDF)

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Journal of Genetic Engineering and Biotechnology, 2021-08, Vol.19 (1), p.111, Article 111

2021

Volltextzugriff (PDF)

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature genetics, 1999-12, Vol.23 (4), p.421-424

1999

Volltextzugriff (PDF)

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.237-242

2019

Volltextzugriff (PDF)

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

American journal of human genetics, 2010-12, Vol.87 (6), p.757-767

2010

Volltextzugriff (PDF)

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420

2020

Volltextzugriff (PDF)

Two different Temtamy syndromes

Clinical dysmorphology, 2013-04, Vol.22 (2), p.91

Temtamy, Samia A

2013

Volltextzugriff (PDF)

Phenotypic and molecular insights into PQBP1‐related intellectual disability

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2446-2450

2018

Volltextzugriff (PDF)

1 – 25 von 131

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(105)
Mit Volltextzugriff
(87)

Publikationsform

Sprache

Englisch
(131)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years

Brachydactyly

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

Mutations in WNT1 Cause Different Forms of Bone Fragility

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

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

Two different Temtamy syndromes

Phenotypic and molecular insights into PQBP1‐related intellectual disability

Suchergebnisse filtern