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...

Hypophosphatasia

Orphanet journal of rare diseases, 2007-10, Vol.2 (1), p.40-40, Article 40

Mornet, Etienne

2007

Volltextzugriff (PDF)

Hypophosphatasia

Best practice & research. Clinical rheumatology, 2008-03, Vol.22 (1), p.113-127

Mornet, Etienne, PhD

2008

Volltextzugriff (PDF)

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.289-299

2021

Volltextzugriff (PDF)

Hypophosphatasia

Metabolism, clinical and experimental, 2018-05, Vol.82, p.142-155

Mornet, Etienne

2018

Volltextzugriff (PDF)

A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Annals of human genetics, 2011-05, Vol.75 (3), p.439-445

2011

Volltextzugriff (PDF)

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1160-1164

2014

Volltextzugriff (PDF)

Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

The Journal of biological chemistry, 2014-08, Vol.289 (35), p.24168-24179

2014

Volltextzugriff (PDF)

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Orphanet journal of rare diseases, 2009-02, Vol.4 (1), p.6-6, Article 6

2009

Volltextzugriff (PDF)

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

Human mutation, 2000-04, Vol.15 (4), p.309-315

Mornet, Etienne

2000

Volltextzugriff (PDF)

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

BMC medical genetics, 2009-06, Vol.10 (51), p.51-51, Article 51

2009

Volltextzugriff (PDF)

Genetic analysis of adults heterozygous for ALPL mutations

Journal of bone and mineral metabolism, 2018-11, Vol.36 (6), p.723-733

2018

Volltextzugriff (PDF)

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

Cell and tissue research, 2011-03, Vol.343 (3), p.521-536

2011

Volltextzugriff (PDF)

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

BMC pediatrics, 2007-01, Vol.7 (1), p.3-3, Article 3

2007

Volltextzugriff (PDF)

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

European journal of pediatrics, 2013-06, Vol.172 (6), p.851-853

2013

Volltextzugriff (PDF)

Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations

Sub-cellular biochemistry, 2015, Vol.76, p.25

Mornet, Etienne

2015

Volltextzugriff (PDF)

Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization

The Journal of biological chemistry, 2001-08, Vol.276 (33), p.31171-31178

2001

Volltextzugriff (PDF)

Specific ultrasonographic features of perinatal lethal hypophosphatasia

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1200-1204

2008

Volltextzugriff (PDF)

Clinical utility gene card for: hypophosphatasia

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.4-5

2011

Volltextzugriff (PDF)

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Human mutation, 2020-07, Vol.41 (7), p.1250-1262

2020

Volltextzugriff (PDF)

Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

The journal of obstetrics and gynaecology research, 2011-10, Vol.37 (10), p.1470-1473

2011

Volltextzugriff (PDF)

Genetics of Hypophosphatasia

Clinical reviews in bone and mineral metabolism, 2013-06, Vol.11 (2), p.71-77

Mornet, Etienne

2013

Volltextzugriff (PDF)

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

Molecular genetics and metabolism, 2005-03, Vol.84 (3), p.273-277

2005

Volltextzugriff (PDF)

Clinical utility gene card for: hypophosphatasia - update 2013

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.572-572

2014

Volltextzugriff (PDF)

Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report

AACE clinical case reports, 2015-01, Vol.1 (4), p.e221-e224

2015

Volltextzugriff (PDF)

Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures

Joint, bone, spine : revue du rhumatisme, 2017-12, Vol.84 (6), p.715-718

2017

Volltextzugriff (PDF)

1 – 25 von 186

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(167)
Mit Volltextzugriff
(168)

Publikationsform

Sprache

Englisch
(183)
Französisch
(3)

Erscheinungsjahr

n.n

Thema

Science & Technology
(133)
Life Sciences & Biomedicine
(85)
Humans
(72)
Chemical Sciences
(55)
Material Chemistry
(52)
Biological And Medical Sciences
(42)
Physical Sciences
(42)
Genetics & Heredity
(41)
Female
(40)
Alkaline Phosphatase - Genetics
(38)
Chemistry
(36)
Hypophosphatasia
(35)
Hypophosphatasia - Genetics
(34)
Materials Science
(33)
Technology
(33)
Male
(30)
Medical Sciences
(30)
Mutation
(30)
Animals
(29)
Materials Science, Multidisciplinary
(27)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Hypophosphatasia

Hypophosphatasia

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Hypophosphatasia

A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

Molecular Evolution of the Tissue-nonspecific Alkaline Phosphatase Allows Prediction and Validation of Missense Mutations Responsible for Hypophosphatasia

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Genetic analysis of adults heterozygous for ALPL mutations

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations

Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization

Specific ultrasonographic features of perinatal lethal hypophosphatasia

Clinical utility gene card for: hypophosphatasia

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

Genetics of Hypophosphatasia

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

Clinical utility gene card for: hypophosphatasia - update 2013

Pseudotumor Cerebri as a Rare Presentation of Infantile Hypophosphatasia: A Case Report

Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures

Suchergebnisse filtern