UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 46

Sortiert nach

IthaGenes: an interactive database for haemoglobin variations and epidemiology

PloS one, 2014-07, Vol.9 (7), p.e103020-e103020

2014

Link zum Volltext

Verfügbarkeit prüfen

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.1-11

2024

Link zum Volltext

Verfügbarkeit prüfen

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

International journal of molecular sciences, 2023-11, Vol.24 (21), p.15965

2023

Link zum Volltext

Verfügbarkeit prüfen

Editorial: Genetic, epigenetic and molecular landscaping of puberty

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1178888-1178888

2023

Link zum Volltext

Verfügbarkeit prüfen

Molecular epidemiology of SARS-CoV-2 in Cyprus

PloS one, 2021-07, Vol.16 (7), p.e0248792-e0248792

2021

Link zum Volltext

Verfügbarkeit prüfen

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Frontiers in endocrinology (Lausanne), 2023-05, Vol.14, p.1156616-1156616

2023

Link zum Volltext

Verfügbarkeit prüfen

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Frontiers in endocrinology (Lausanne), 2019-10, Vol.10, p.677-677

2019

Link zum Volltext

Verfügbarkeit prüfen

Sex-specific transcriptional profiles identified in β-thalassemia patients

Haematologica (Roma), 2021-04, Vol.106 (4), p.1207-1211

2021

Link zum Volltext

Verfügbarkeit prüfen

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Life (Basel, Switzerland), 2023-06, Vol.13 (6), p.1332

2023

Link zum Volltext

Verfügbarkeit prüfen

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-409, Article 409

2021

Link zum Volltext

Verfügbarkeit prüfen

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Frontiers in endocrinology (Lausanne), 2018-12, Vol.9, p.733-733

2018

Link zum Volltext

Verfügbarkeit prüfen

Methylation status of hypothalamic Mkrn3 promoter across puberty

Frontiers in endocrinology (Lausanne), 2023-01, Vol.13, p.1075341-1075341

2023

Link zum Volltext

Verfügbarkeit prüfen

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of the Literature

Frontiers in endocrinology (Lausanne), 2020-08, Vol.11, p.626-626

2020

Link zum Volltext

Verfügbarkeit prüfen

Five Friends of Methylated Chromatin Target of Protein-Arginine-Methyltransferase[Prmt]-1 (Chtop), a Complex Linking Arginine Methylation to Desumoylation

Molecular & cellular proteomics, 2012-11, Vol.11 (11), p.1263-1273

2012

Link zum Volltext

Verfügbarkeit prüfen

A novel MKRN3 nonsense mutation causing familial central precocious puberty

Endocrine, 2017-05, Vol.56 (2), p.446-449

2017

Link zum Volltext

Verfügbarkeit prüfen

Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain

Frontiers in molecular neuroscience, 2018-05, Vol.11, p.152-152

2018

Link zum Volltext

Verfügbarkeit prüfen

Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia

Endocrine Connections, 2023-07, Vol.12 (8), p.1-10

2023

Link zum Volltext

Verfügbarkeit prüfen

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

Frontiers in integrative neuroscience, 2020-08, Vol.14, p.45-45

2020

Link zum Volltext

Verfügbarkeit prüfen

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.745048-745048

2021

Link zum Volltext

Verfügbarkeit prüfen

Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene

Srpski arhiv za celokupno lekarstvo, 2021-11, Vol.149 (11-12), p.685-690

2021

Link zum Volltext

Verfügbarkeit prüfen

Friend of Prmt1, a Novel Chromatin Target of Protein Arginine Methyltransferases

Molecular and Cellular Biology, 2010-01, Vol.30 (1), p.260-272

2010

Link zum Volltext

Verfügbarkeit prüfen

Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures

Journal of clinical medicine, 2020-01, Vol.9 (1), p.134

2020

Link zum Volltext

Verfügbarkeit prüfen

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

International journal of endocrinology, 2017-01, Vol.2017, p.1-8

2017

Link zum Volltext

Verfügbarkeit prüfen

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

Journal of clinical research in pediatric endocrinology, 2018-03, Vol.10 (1), p.74-78

2018

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 46

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(41)
Mit Volltextzugriff
(43)

Publikationsform

Artikel
(45)
Berichte
(1)

Sprache

Englisch
(46)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Frontiers In Endocrinology
(7)
Hormones
(4)
Orphanet Journal Of Rare Diseases
(4)
Endocrine
(2)
Haematologica
(2)
International Journal Of Endocrinology
(2)
Nature Genetics
(2)
Plos One
(2)
Bmc Genomics
(1)
Endocrine Connections
(1)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

IthaGenes: an interactive database for haemoglobin variations and epidemiology

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

Editorial: Genetic, epigenetic and molecular landscaping of puberty

Molecular epidemiology of SARS-CoV-2 in Cyprus

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5′-UTR Region of the Imprinted MKRN3 Gene

Sex-specific transcriptional profiles identified in β-thalassemia patients

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

Methylation status of hypothalamic Mkrn3 promoter across puberty

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of the Literature

Five Friends of Methylated Chromatin Target of Protein-Arginine-Methyltransferase[Prmt]-1 (Chtop), a Complex Linking Arginine Methylation to Desumoylation

A novel MKRN3 nonsense mutation causing familial central precocious puberty

Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain

Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty

Audiological features in Serbian patients with hearing impairment identified with c.35delG in the GJB2 gene

Friend of Prmt1, a Novel Chromatin Target of Protein Arginine Methyltransferases

Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

Suchergebnisse filtern