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...

Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020

Diabetes care, 2021-01, Vol.44 (1), p.50-57

2021

Volltextzugriff (PDF)

SavvyCNV: Genome-wide CNV calling from off-target reads

PLoS computational biology, 2022-03, Vol.18 (3), p.e1009940

2022

Volltextzugriff (PDF)

Prospective functional classification of all possible missense variants in PPARG

Nature genetics, 2016-12, Vol.48 (12), p.1570-1575

2016

Volltextzugriff (PDF)

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Diabetes (New York, N.Y.), 2016-07, Vol.65 (7), p.2094-2099

2016

Volltextzugriff (PDF)

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Diabetes (New York, N.Y.), 2021-04, Vol.70 (4), p.1006-1018

2021

Volltextzugriff (PDF)

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Nature communications, 2017-10, Vol.8 (1), p.888-8, Article 888

2017

Volltextzugriff (PDF)

Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young

BMC medical research methodology, 2024-06, Vol.24 (1), p.128-17

2024

Volltextzugriff (PDF)

Precision diabetes: learning from monogenic diabetes

Diabetologia, 2017-05, Vol.60 (5), p.769-777

2017

Volltextzugriff (PDF)

Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

Journal of clinical research in pediatric endocrinology, 2023-03, Vol.15 (1), p.90-96

2023

Volltextzugriff (PDF)

Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records

BMC medical genomics, 2023-10, Vol.16 (1), p.231-231, Article 231

2023

Volltextzugriff (PDF)

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes

Journal of diabetes investigation, 2023-12, Vol.14 (12), p.1378-1382

2023

Volltextzugriff (PDF)

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

The Journal of clinical investigation, 2020-01, Vol.130 (1), p.14-16

2020

Volltextzugriff (PDF)

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea

Life science alliance, 2022-02, Vol.5 (2), p.e202101068

2022

Volltextzugriff (PDF)

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin

Diabetologia, 2018-12, Vol.61 (12), p.2520-2527

2018

Volltextzugriff (PDF)

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Diabetes (New York, N.Y.), 2022-05, Vol.71 (5), p.1128-1136

2022

Volltextzugriff (PDF)

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R

Cell, 2021-04, Vol.184 (7), p.1651-1651

2021

Volltextzugriff (PDF)

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (6), p.e2318-e2323

2022

Volltextzugriff (PDF)

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

American journal of human genetics, 2022-11, Vol.109 (11), p.2018-2028

2022

Volltextzugriff (PDF)

The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes

Diabetologia, 2023-02, Vol.66 (2), p.310-320

2023

Volltextzugriff (PDF)

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

Nature genetics, 2024-09, Vol.56 (9), p.1772-1779

2024

Volltextzugriff (PDF)

All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

Wellcome open research, 2020-01, Vol.5, p.175-175

2020

Volltextzugriff (PDF)

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

The journal of clinical endocrinology and metabolism, 2023-03, Vol.108 (3), p.680-687

2023

Volltextzugriff (PDF)

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

Human molecular genetics, 2024-02, Vol.33 (5), p.465-474

2024

Volltextzugriff (PDF)

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

Diabetes (New York, N.Y.), 2023-11, Vol.72 (11), p.1729-1734

2023

Volltextzugriff (PDF)

Islet Autoantibody Level Distribution in Type 1 Diabetes and Their Association With Genetic and Clinical Characteristics

The journal of clinical endocrinology and metabolism, 2022-12, Vol.107 (12), p.e4341-e4349

2022

Volltextzugriff (PDF)

1 – 25 von 628

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(486)
Mit Volltextzugriff
(482)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Diabetes
(16)
Curēus
(15)
Diabetologia
(14)
Blood
(13)
Chest
(13)
Journal Of Clinical Oncology
(13)
Journal Of Vascular Surgery
(12)
Gastroenterology
(11)
Journal Of The American College Of Cardiology
(11)
The American Journal Of Gastroenterology
(8)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020

SavvyCNV: Genome-wide CNV calling from off-target reads

Prospective functional classification of all possible missense variants in PPARG

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young

Precision diabetes: learning from monogenic diabetes

Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus

Islet Autoantibody Level Distribution in Type 1 Diabetes and Their Association With Genetic and Clinical Characteristics

Suchergebnisse filtern