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...

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

Biochemical and biophysical research communications, 2010-07, Vol.398 (3), p.513-518

2010

Volltextzugriff (PDF)

O34: Utility of targeted RNA analysis in neurological disorders

Genetics in Medicine Open, 2024, Vol.2, p.101473, Article 101473

2024

Volltextzugriff (PDF)

Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression

Endocrinology (Philadelphia), 2009-06, Vol.150 (6), p.2543-2550

2009

Volltextzugriff (PDF)

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice

Endocrinology (Philadelphia), 2017-03, Vol.158 (3), p.470-476

2017

Volltextzugriff (PDF)

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells

Journal of bone and mineral research, 2012-02, Vol.27 (2), p.453-460

2012

Volltextzugriff (PDF)

High Dietary Phosphate Intake Induces Development of Ectopic Calcifications in a Murine Model of Familial Tumoral Calcinosis

Journal of bone and mineral research, 2014-09, Vol.29 (9), p.2017-2023

2014

Volltextzugriff (PDF)

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.896-903

2010

Volltextzugriff (PDF)

The phosphate-lowering effect of nicotinamide is offset by reduced Fgf23 levels in a murine model of familial tumoral calcinosis

Seminars in arthritis and rheumatism, 2013-04, Vol.42 (5), p.549-549

2013

Volltextzugriff (PDF)

Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

The journal of clinical endocrinology and metabolism, 2007-05, Vol.92 (5), p.1943-1947

2007

Volltextzugriff (PDF)

Dietary Phosphate Restriction Normalizes Biochemical and Skeletal Abnormalities in a Murine Model of Tumoral Calcinosis

Endocrinology (Philadelphia), 2011-12, Vol.152 (12), p.4504-4513

2011

Volltextzugriff (PDF)

An unusual combination of neurological manifestations and sudden vision loss in a child with familial hyperphosphatemic tumoral calcinosis

Annals of the Indian Academy of Neurology, 2019-07, Vol.22 (3), p.327-331

2019

Volltextzugriff (PDF)

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

Cold Spring Harbor molecular case studies, 2020-06, Vol.6 (3), p.a005017

2020

Volltextzugriff (PDF)

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

Case reports in genetics, 2018, Vol.2018 (2018), p.1-3

2018

Volltextzugriff (PDF)

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Case reports in genetics, 2018, Vol.2018 (2018), p.1-6

2018

Volltextzugriff (PDF)

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Case reports in genetics, 2017-01, Vol.2017 (2017), p.1-5

2017

Volltextzugriff (PDF)

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Case reports in genetics, 2016-01, Vol.2016 (2016), p.1-5

2016

Volltextzugriff (PDF)

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

Case reports in genetics, 2016-01, Vol.2016 (2016), p.1-5

2016

Volltextzugriff (PDF)

Genetics of Familial Tumoral Calcinosis

American journal of kidney diseases, 2009-03, Vol.53 (3), p.563-564

2009

Volltextzugriff (PDF)

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Brain (London, England : 1878), 2018-11, Vol.141 (11), p.3160-3178

2018

Volltextzugriff (PDF)

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

Journal of the American Society of Nephrology, 2014-10, Vol.25 (10), p.2366-2375

2014

Volltextzugriff (PDF)

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

Human mutation, 2024-05, Vol.2024, p.1-13

2024

Volltextzugriff (PDF)

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

The Journal of clinical investigation, 2007-09, Vol.117 (9), p.2684-2691

2007

Volltextzugriff (PDF)

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

The Journal of clinical investigation, 2018-12, Vol.128 (12), p.5368-5373

2018

Volltextzugriff (PDF)

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis‐Hyperphosphatemia Syndrome

Journal of bone and mineral research, 2016-10, Vol.31 (10), p.1845-1854

2016

Volltextzugriff (PDF)

Dosage Effect of a Phex Mutation in a Murine Model of X-Linked Hypophosphatemia

Calcified tissue international, 2013-08, Vol.93 (2), p.155-162

2013

Volltextzugriff (PDF)

1 – 25 von 427

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(318)
Mit Volltextzugriff
(352)

Publikationsform

Sprache

Englisch
(367)
Japanisch
(184)

Erscheinungsjahr

n.n

Thema

Science & Technology
(216)
Life Sciences & Biomedicine
(176)
Humans
(156)
Male
(120)
Female
(116)
Middle Aged
(68)
Adult
(66)
Biological And Medical Sciences
(59)
Aged
(57)
Medical Sciences
(45)
Animals
(34)
Physical Sciences
(32)
Endocrinology & Metabolism
(30)
Mutation
(30)
Oncology
(30)
Fundamental And Applied Biological Sciences. Psychology
(28)
Neurosciences & Neurology
(27)
Aged, 80 And Over
(21)
Prognosis
(21)
Clinical Neurology
(20)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

O34: Utility of targeted RNA analysis in neurological disorders

Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells

High Dietary Phosphate Intake Induces Development of Ectopic Calcifications in a Murine Model of Familial Tumoral Calcinosis

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

The phosphate-lowering effect of nicotinamide is offset by reduced Fgf23 levels in a murine model of familial tumoral calcinosis

Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

Dietary Phosphate Restriction Normalizes Biochemical and Skeletal Abnormalities in a Murine Model of Tumoral Calcinosis

An unusual combination of neurological manifestations and sudden vision loss in a child with familial hyperphosphatemic tumoral calcinosis

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

Genetics of Familial Tumoral Calcinosis

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis‐Hyperphosphatemia Syndrome

Dosage Effect of a Phex Mutation in a Murine Model of X-Linked Hypophosphatemia

Suchergebnisse filtern