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 effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963

2015

Volltextzugriff (PDF)

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

Human mutation, 2013-05, Vol.34 (5), p.669-685

2013

Volltextzugriff (PDF)

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

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

2022

Volltextzugriff (PDF)

Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality

Diabetic medicine, 2023-05, Vol.40 (5), p.e15013-n/a

2023

Volltextzugriff (PDF)

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism

PloS one, 2014-05, Vol.9 (5), p.e98054-e98054

2014

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)

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Diabetes (New York, N.Y.), 2017-07, Vol.66 (7), p.2044-2053

2017

Volltextzugriff (PDF)

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

The Journal of clinical investigation, 2023-03, Vol.133 (6)

2023

Volltextzugriff (PDF)

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Nature genetics, 2014-01, Vol.46 (1), p.61-64

2014

Volltextzugriff (PDF)

Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease

Frontiers in endocrinology (Lausanne), 2022-07, Vol.13, p.873254-873254

2022

Volltextzugriff (PDF)

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

Genetic testing and molecular biomarkers, 2010-08, Vol.14 (4), p.533-537

2010

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)

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Diabetes (New York, N.Y.), 2013-03, Vol.62 (3), p.993-997

2013

Volltextzugriff (PDF)

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

PloS one, 2020-02, Vol.15 (2), p.e0228417-e0228417

2020

Volltextzugriff (PDF)

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Diabetes (New York, N.Y.), 2014-08, Vol.63 (8), p.2888-2894

2014

Volltextzugriff (PDF)

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

Diabetologia, 2016-06, Vol.59 (6), p.1162-1166

2016

Volltextzugriff (PDF)

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

Cell metabolism, 2014-01, Vol.19 (1), p.146-154

2014

Volltextzugriff (PDF)

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

Diabetes (New York, N.Y.), 2020-03, Vol.69 (3), p.477-483

2020

Volltextzugriff (PDF)

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

American journal of human genetics, 2019-05, Vol.104 (5), p.985-989

2019

Volltextzugriff (PDF)

Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP

EMBO molecular medicine, 2023-03, Vol.15 (3), p.e16491-n/a

2023

Volltextzugriff (PDF)

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

Journal of diabetes investigation, 2023-04, Vol.14 (4), p.516-521

2023

Volltextzugriff (PDF)

Insulin gene mutations as a cause of permanent neonatal diabetes

Proceedings of the National Academy of Sciences - PNAS, 2007-09, Vol.104 (38), p.15040-15044

2007

Volltextzugriff (PDF)

Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

American journal of human genetics, 2013-01, Vol.92 (1), p.131-136

2013

Volltextzugriff (PDF)

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Diabetes (New York, N.Y.), 2007-07, Vol.56 (7), p.1930-1937

2007

Volltextzugriff (PDF)

Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations

Diabetes care, 2008-02, Vol.31 (2), p.204-209

2008

Volltextzugriff (PDF)

1 – 25 von 289

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(270)
Mit Volltextzugriff
(243)

Publikationsform

Sprache

Englisch
(289)
Türkisch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(211)
Life Sciences & Biomedicine
(202)
Humans
(185)
Mutation
(126)
Endocrinology & Metabolism
(124)
Male
(112)
Female
(107)
Infant, Newborn
(98)
Diabetes
(81)
Infant
(81)
Potassium Channels, Inwardly Rectifying - Genetics
(65)
Pediatrics
(64)
Diabetes Mellitus - Genetics
(57)
Insulin
(51)
Diabetes Mellitus
(49)
Child, Preschool
(44)
Congenital Hyperinsulinism - Genetics
(42)
Hypoglycemia
(40)
Biological And Medical Sciences
(37)
Child
(37)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

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

Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality

Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism

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

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

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

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

Insulin gene mutations as a cause of permanent neonatal diabetes

Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations

Suchergebnisse filtern