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...

A Nonreversible 10-kW High Step-Up Converter Using a Multicell Boost Topology

IEEE transactions on power electronics, 2018-01, Vol.33 (1), p.151-160

2018

Volltextzugriff (PDF)

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

The journal of clinical endocrinology and metabolism, 2016-07, Vol.101 (7), p.2810-2815

2016

Volltextzugriff (PDF)

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Genetics in medicine, 2018-02, Vol.20 (2), p.250-258

2018

Volltextzugriff (PDF)

Digital Sliding-Mode Observer Implementation Using FPGA

IEEE transactions on industrial electronics (1982), 2007-08, Vol.54 (4), p.1865-1875

2007

Volltextzugriff (PDF)

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

European journal of endocrinology, 2013-04, Vol.168 (4), p.533-541

2013

Volltextzugriff (PDF)

Altered Cortisol Metabolism Increases Nocturnal Cortisol Bioavailability in Prepubertal Children With Type 1 Diabetes Mellitus

Frontiers in endocrinology (Lausanne), 2021-12, Vol.12, p.742669-742669

2021

Volltextzugriff (PDF)

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

Journal of lipid research, 2016-03, Vol.57 (3), p.482-491

2016

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)

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience

Frontiers in pediatrics, 2022-08, Vol.10, p.926986-926986

2022

Volltextzugriff (PDF)

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

PLoS genetics, 2006-10, Vol.2 (10), p.e175-e175

2006

Volltextzugriff (PDF)

Analysis of AP2S1, a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism

The journal of clinical endocrinology and metabolism, 2014-03, Vol.99 (3), p.E469-E473

2014

Volltextzugriff (PDF)

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nature genetics, 2001-02, Vol.27 (2), p.159-166

2001

Volltextzugriff (PDF)

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

Frontiers in endocrinology (Lausanne), 2018-09, Vol.9, p.491-491

2018

Volltextzugriff (PDF)

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Journal of medical genetics, 2011-01, Vol.48 (1), p.55-63

2011

Volltextzugriff (PDF)

Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia

The journal of clinical endocrinology and metabolism, 2001-11, Vol.86 (11), p.5313-5323

2001

Volltextzugriff (PDF)

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Endocrine Connections, 2022-01, Vol.11 (1), p.1-11

2022

Volltextzugriff (PDF)

Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

The journal of clinical endocrinology and metabolism, 2004-09, Vol.89 (9), p.4285-4291

2004

Volltextzugriff (PDF)

Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up

The journal of clinical endocrinology and metabolism, 2020-03, Vol.105 (3), p.e436-e446

2020

Volltextzugriff (PDF)

Altered Cortisol Metabolism Increases Nocturnal Cortisol Bioavailability in Prepubertal Children With Type 1 Diabetes Mellitus

Frontiers in endocrinology (Lausanne), 2021-12, Vol.12

2021

Volltextzugriff (PDF)

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients

Clinical endocrinology (Oxford), 2020-09, Vol.93 (3), p.248-260

2020

Volltextzugriff (PDF)

IMAGe association: additional clinical features and evidence for recessive autosomal inheritance

Hormone research, 2002-01, Vol.57 Suppl 2 (Suppl. 2), p.71-78

2002

Volltextzugriff (PDF)

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Diabetes care, 2015-11, Vol.38 (11), p.2033-2041

2015

Volltextzugriff (PDF)

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4789-4798

2016

Volltextzugriff (PDF)

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

Hormone research in paediatrics, 2020-12, Vol.93 (5), p.304-312

2020

Volltextzugriff (PDF)

1 – 25 von 61

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(52)
Mit Volltextzugriff
(50)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A Nonreversible 10-kW High Step-Up Converter Using a Multicell Boost Topology

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction

Digital Sliding-Mode Observer Implementation Using FPGA

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

Altered Cortisol Metabolism Increases Nocturnal Cortisol Bioavailability in Prepubertal Children With Type 1 Diabetes Mellitus

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

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

Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

Analysis of AP2S1, a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia

Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized Thyroid

Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up

Altered Cortisol Metabolism Increases Nocturnal Cortisol Bioavailability in Prepubertal Children With Type 1 Diabetes Mellitus

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients

IMAGe association: additional clinical features and evidence for recessive autosomal inheritance

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

Demographic Characteristics, Risk Factors, and Presenting Features of Children with Symptomatic Nutritional Rickets: A French Series

Suchergebnisse filtern