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...

Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

Journal of human genetics, 2016-02, Vol.61 (2), p.87-94

2016

Volltextzugriff (PDF)

Serum Bisphenol A Level in Boys with Cryptorchidism: A Step to Male Infertility?

International Journal of Endocrinology, 2015-01, Vol.2015 (2015), p.1-8

2015

Volltextzugriff (PDF)

Congenital disorders of estrogen biosynthesis and action

Baillière's best practice & research. Clinical endocrinology & metabolism, 2022-01, Vol.36 (1), p.101580, Article 101580

2022

Volltextzugriff (PDF)

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

Endocrine reviews, 2016-08, Vol.37 (4), p.417-448

2016

Volltextzugriff (PDF)

SHOX and sex difference in height: a hypothesis

Endocrine Journal, 2025, pp.EJ24-0249

2025

Volltextzugriff (PDF)

Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development

Developmental dynamics, 2013-04, Vol.242 (4), p.320-329

2013

Volltextzugriff (PDF)

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature

Endocrine Journal, 2024, Vol.71(1), pp.75-81

2024

Volltextzugriff (PDF)

Changes in Bone Mineral Density and Metabolic Parameters after Pulsatile Gonadorelin Treatment in Young Men with Hypogonadotropic Hypogonadism

International Journal of Endocrinology, 2015-01, Vol.2015 (2015), p.1-5

2015

Volltextzugriff (PDF)

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Journal of human genetics, 2019-04, Vol.64 (4), p.313-322

2019

Volltextzugriff (PDF)

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

Journal of human genetics, 2022-07, Vol.67 (7), p.387-392

2022

Volltextzugriff (PDF)

11β-Hydroxysteroid Dehydrogenase 2 in Preeclampsia

International Journal of Endocrinology, 2016-01, Vol.2016 (2016), p.1-9

2016

Volltextzugriff (PDF)

MAMLD1 and Differences/Disorders of Sex Development: An Update

Sexual development, 2022-11, Vol.16 (2-3), p.126-137

2022

Volltextzugriff (PDF)

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.173-180

2013

Volltextzugriff (PDF)

Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects

Pediatrics international, 2014-12, Vol.56 (6), p.805-808

2014

Volltextzugriff (PDF)

Association of four imprinting disorders and ART

Clinical epigenetics, 2019-02, Vol.11 (1), p.21-21, Article 21

2019

Volltextzugriff (PDF)

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

Journal of human genetics, 2023-07, Vol.68 (7), p.499-505

2023

Volltextzugriff (PDF)

11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome

Endocrine Journal, 2018, Vol.65(10), pp.979-990

2018

Volltextzugriff (PDF)

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

Volltextzugriff (PDF)

Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

The journal of clinical endocrinology and metabolism, 2021-05, Vol.106 (5), p.1491-1500

2021

Volltextzugriff (PDF)

Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant

Journal of human genetics, 2021-12, Vol.66 (12), p.1185-1187

2021

Volltextzugriff (PDF)

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

Molecular syndromology, 2016-04, Vol.7 (1), p.3-11

2016

Volltextzugriff (PDF)

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

Journal of human genetics, 2022-05, Vol.67 (5), p.303-306

2022

Volltextzugriff (PDF)

Genomic imprinting at the mammalian Dlk1-Dio3 domain

Trends in genetics, 2008-06, Vol.24 (6), p.306-316

2008

Volltextzugriff (PDF)

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review

Clinical epigenetics, 2024-06, Vol.16 (1), p.73-8

2024

Volltextzugriff (PDF)

1 – 25 von 1.112

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(889)
Mit Volltextzugriff
(969)

Publikationsform

Sprache

Englisch
(992)
Japanisch
(370)
Deutsch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(9)

Menü

Weitere Dienste

Einstellungen

Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

Serum Bisphenol A Level in Boys with Cryptorchidism: A Step to Male Infertility?

Congenital disorders of estrogen biosynthesis and action

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

SHOX and sex difference in height: a hypothesis

Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature

Changes in Bone Mineral Density and Metabolic Parameters after Pulsatile Gonadorelin Treatment in Young Men with Hypogonadotropic Hypogonadism

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

11β-Hydroxysteroid Dehydrogenase 2 in Preeclampsia

MAMLD1 and Differences/Disorders of Sex Development: An Update

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects

Association of four imprinting disorders and ART

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant

SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

Genomic imprinting at the mammalian Dlk1-Dio3 domain

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review

Suchergebnisse filtern