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 RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

Endocrine reviews, 2018-10, Vol.39 (5), p.676-700

2018

Volltextzugriff (PDF)

Noonan syndrome: improving recognition and diagnosis

Archives of disease in childhood, 2022-12, Vol.107 (12), p.1073-1078

2022

Volltextzugriff (PDF)

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

European heart journal, 2015-08, Vol.36 (32), p.2160-2166

2015

Volltextzugriff (PDF)

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation

PloS one, 2015-11, Vol.10 (11), p.e0142354-e0142354

2015

Volltextzugriff (PDF)

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Genetics in medicine, 2018-02, Vol.20 (2), p.250-258

2018

Volltextzugriff (PDF)

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders

European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.771-779

2021

Volltextzugriff (PDF)

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Genetics in medicine, 2019-09, Vol.21 (9), p.2015-2024

2019

Volltextzugriff (PDF)

Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study

Children (Basel), 2024-07, Vol.11 (8), p.900

2024

Volltextzugriff (PDF)

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth

Human molecular genetics, 2018-07, Vol.27 (13), p.2276-2289

2018

Volltextzugriff (PDF)

Editorial: Endocrine aspects of Noonan syndrome and related syndromes

Frontiers in endocrinology (Lausanne), 2023-01, Vol.13, p.1127686-1127686

2023

Volltextzugriff (PDF)

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

American journal of human genetics, 2014-12, Vol.95 (6), p.736-743

2014

Volltextzugriff (PDF)

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

Clinical genetics, 2023-07, Vol.104 (1), p.114-120

2023

Volltextzugriff (PDF)

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.180-180, Article 180

2024

Volltextzugriff (PDF)

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

Frontiers in endocrinology (Lausanne), 2021-06, Vol.12, p.657913-657913

2021

Volltextzugriff (PDF)

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (42), p.E4494-E4503

2014

Volltextzugriff (PDF)

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

European journal of endocrinology, 2018-12, Vol.179 (6), p.409-418

2018

Volltextzugriff (PDF)

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature

Proceedings of the National Academy of Sciences - PNAS, 2012-03, Vol.109 (11), p.4257-4262

2012

Volltextzugriff (PDF)

Effect of Beta-Blockade on Ascending Aortic Dilatation in Children With the Marfan Syndrome

The American journal of cardiology, 2007-02, Vol.99 (3), p.406-409

2007

Volltextzugriff (PDF)

The Tyrosine Phosphatase SHP2: A New Target for Insulin Resistance?

Biomedicines, 2022-08, Vol.10 (9), p.2139

2022

Volltextzugriff (PDF)

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

The journal of clinical endocrinology and metabolism, 2017-01, Vol.102 (1), p.290-301

2017

Volltextzugriff (PDF)

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1814-n/a

2021

Volltextzugriff (PDF)

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Molecular genetics & genomic medicine, 2020-05, Vol.8 (5), p.e1132-n/a

2020

Volltextzugriff (PDF)

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2)

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2024-09, Vol.31 (4), p.4S27-4S32

2024

Volltextzugriff (PDF)

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

Endocrine Connections, 2022-04, Vol.11 (4), p.1-12

2022

Volltextzugriff (PDF)

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

Bone Reports, 2022-06, Vol.16, p.101176-101176, Article 101176

2022

Volltextzugriff (PDF)

1 – 25 von 1.448

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.041)
Mit Volltextzugriff
(1.248)

Publikationsform

5 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(1.352)
Französisch
(92)
Deutsch
(11)
Japanisch
(4)
Croatian
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

EZB Electronic Journals Library
(624)
Ingenta
(500)
MEDLINE
(427)
Journals@Ovid Complete
(340)
Ebook Central Perpetual and DDA
(283)
eBooks on EBSCOhost
(283)
Elsevier ScienceDirect Journals Complete
(273)
Single Journals
(252)
IngentaConnect Journals
(199)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(126)
Wiley Online Library Journals Frontfile Complete
(113)
SpringerLink
(105)
Wiley Online Library
(75)
Oxford Journals
(68)
Nature Journals Online
(62)
Oxford Journals 2020 Medicine
(53)
Nexis Uni
(41)
Jstor Complete Legacy
(40)
SpringerLINK Contemporary (Konsortium Baden-Württemberg)
(34)
BMJ
(25)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(27)
... seit 30 Tagen
(12)

Menü

Weitere Dienste

Einstellungen

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

Noonan syndrome: improving recognition and diagnosis

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth

Editorial: Endocrine aspects of Noonan syndrome and related syndromes

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature

Effect of Beta-Blockade on Ascending Aortic Dilatation in Children With the Marfan Syndrome

The Tyrosine Phosphatase SHP2: A New Target for Insulin Resistance?

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2)

Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

Suchergebnisse filtern