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...

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate

Scientific reports, 2022-08, Vol.12 (1), p.14686-14686, Article 14686

2022

Volltextzugriff (PDF)

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

PloS one, 2017-03, Vol.12 (3), p.e0173279-e0173279

2017

Volltextzugriff (PDF)

Immune-mediated disorders among women carriers of fragile X premutation alleles

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2473-2481

2012

Volltextzugriff (PDF)

Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13

PLoS neglected tropical diseases, 2012-05, Vol.6 (5), p.e1628-e1628

2012

Volltextzugriff (PDF)

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1095-n/a

2020

Volltextzugriff (PDF)

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Human mutation, 2015-12, Vol.36 (12), p.1145-1149

2015

Volltextzugriff (PDF)

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Clinical endocrinology (Oxford), 2023-01, Vol.98 (1), p.41-48

2023

Volltextzugriff (PDF)

Imbalance of Angiopoietin-1 and Angiopoetin-2 in Severe Dengue and Relationship with Thrombocytopenia, Endothelial Activation, and Vascular Stability

The American journal of tropical medicine and hygiene, 2012-11, Vol.87 (5), p.943-946

2012

Volltextzugriff (PDF)

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads

The journal of clinical endocrinology and metabolism, 2006-06, Vol.91 (6), p.2404-2413

2006

Volltextzugriff (PDF)

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2731-2736

2020

Volltextzugriff (PDF)

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Frontiers in endocrinology (Lausanne), 2022-12, Vol.13, p.1015973-1015973

2022

Volltextzugriff (PDF)

Side Effects of Minocycline Treatment in Patients with Fragile X Syndrome and Exploration of Outcome Measures

American journal on intellectual and developmental disabilities, 2010-09, Vol.115 (5), p.433-443

2010

Volltextzugriff (PDF)

46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description

Frontiers in endocrinology (Lausanne), 2024-08, Vol.15, p.1410122

2024

Volltextzugriff (PDF)

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development

Archives of sexual behavior, 2015-07, Vol.44 (5), p.1339-1361

2015

Volltextzugriff (PDF)

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Frontiers in endocrinology (Lausanne), 2023-05, Vol.14, p.1210892-1210892

2023

Volltextzugriff (PDF)

High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections

Journal of clinical virology, 2011-01, Vol.50 (1), p.8-12

2011

Volltextzugriff (PDF)

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Human genomics, 2017-02, Vol.11 (1), p.1-1, Article 1

2017

Volltextzugriff (PDF)

Methadone use in a male with the FMRI premutation and FXTAS

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1354-1359

2015

Volltextzugriff (PDF)

Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

Egyptian Journal of Medical Human Genetics, 2021-02, Vol.22 (1), p.14, Article 14

2021

Volltextzugriff (PDF)

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.486-493

2015

Volltextzugriff (PDF)

Current practice for genetic counselling by nurses: An integrative review

International journal of nursing practice, 2018-04, Vol.24 (2), p.e12629-n/a

2018

Volltextzugriff (PDF)

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia

Clinical endocrinology (Oxford), 2016-08, Vol.85 (2), p.247-257

2016

Volltextzugriff (PDF)

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia

Journal of investigative surgery, 2021-02, Vol.34 (2), p.227-233

2021

Volltextzugriff (PDF)

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report

Case reports in dermatology, 2022-10, Vol.14 (3), p.291-301

2022

Volltextzugriff (PDF)

Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia

Intractable & Rare Diseases Research, 2023/05/31, Vol.12(2), pp.104-113

2023

Volltextzugriff (PDF)

1 – 25 von 135

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(110)
Mit Volltextzugriff
(103)

Publikationsform

Artikel
(133)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

Immune-mediated disorders among women carriers of fragile X premutation alleles

Severe dengue is associated with consumption of von Willebrand factor and its cleaving enzyme ADAMTS-13

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Imbalance of Angiopoietin-1 and Angiopoetin-2 in Severe Dengue and Relationship with Thrombocytopenia, Endothelial Activation, and Vascular Stability

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

Side Effects of Minocycline Treatment in Patients with Fragile X Syndrome and Exploration of Outcome Measures

46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country

High plasma mid-regional pro-adrenomedullin levels in children with severe dengue virus infections

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

Methadone use in a male with the FMRI premutation and FXTAS

Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Current practice for genetic counselling by nurses: An integrative review

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report

Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia

Suchergebnisse filtern