UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 132

Sortiert nach

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

Neuroendocrinology, 2018-01, Vol.107 (2), p.127-132

2018

Link zum Volltext

Verfügbarkeit prüfen

Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity

Molecular and cellular endocrinology, 2021-01, Vol.519, p.111040-111040, Article 111040

2021

Link zum Volltext

Verfügbarkeit prüfen

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

Hormone research in paediatrics, 2019, Vol.92 (1), p.1-14

2019

Link zum Volltext

Verfügbarkeit prüfen

DLK1 Is a Novel Link Between Reproduction and Metabolism

The journal of clinical endocrinology and metabolism, 2019-06, Vol.104 (6), p.2112-2120

2019

Link zum Volltext

Verfügbarkeit prüfen

Response to Letter to the Editor: “IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy”

The journal of clinical endocrinology and metabolism, 2019-11, Vol.104 (11), p.5118-5119

2019

Link zum Volltext

Verfügbarkeit prüfen

Growth hormone therapy in children; research and practice – A review

Growth hormone & IGF research, 2019-02, Vol.44, p.20-32

2019

Link zum Volltext

Verfügbarkeit prüfen

Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency

Hormone research in paediatrics, 2017-01, Vol.88 (6), p.421-422

Jorge, Alexander A.L.

2017

Link zum Volltext

Verfügbarkeit prüfen

A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice

Current gene therapy, 2014-02, Vol.14 (1), p.44

2014

Link zum Volltext

Verfügbarkeit prüfen

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness

The journal of clinical endocrinology and metabolism, 2020-10, Vol.105 (10), p.3203-3214

2020

Link zum Volltext

Verfügbarkeit prüfen

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Genetics in medicine, 2018-01, Vol.20 (1), p.91-97

2018

Link zum Volltext

Verfügbarkeit prüfen

Novel SUZ12 mutations in Weaver‐like syndrome

Clinical genetics, 2018-11, Vol.94 (5), p.461-466

2018

Link zum Volltext

Verfügbarkeit prüfen

Response to Letter to the Editor: “A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness”

The journal of clinical endocrinology and metabolism, 2021-01, Vol.106 (1), p.e409-e410

2021

Link zum Volltext

Verfügbarkeit prüfen

Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

Hormone research in paediatrics, 2014-01, Vol.82 (4), p.222-229

2014

Link zum Volltext

Verfügbarkeit prüfen

Growth responses following a single intra-muscular hGH plasmid administration compared to daily injections of hGH in dwarf mice

Current gene therapy, 2012-12, Vol.12 (6), p.437

2012

Link zum Volltext

Verfügbarkeit prüfen

Usefulness of MLPA in the detection of SHOX deletions

European journal of medical genetics, 2010-09, Vol.53 (5), p.234-238

2010

Link zum Volltext

Verfügbarkeit prüfen

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

Clinics (São Paulo, Brazil), 2021, Vol.76, p.e2052-e2052, Article e2052

2021

Link zum Volltext

Verfügbarkeit prüfen

A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation

Hormone research in paediatrics, 2020-09, Vol.93 (3), p.197-205

2020

Link zum Volltext

Verfügbarkeit prüfen

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Hormone research in paediatrics, 2018-01, Vol.89 (1), p.13-21

2018

Link zum Volltext

Verfügbarkeit prüfen

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.115-123

2020

Link zum Volltext

Verfügbarkeit prüfen

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261

2019

Link zum Volltext

Verfügbarkeit prüfen

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

Journal of the Endocrine Society, 2022-09, Vol.6 (9), p.bvac106-bvac106

2022

Link zum Volltext

Verfügbarkeit prüfen

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Journal of pediatric endocrinology & metabolism : JPEM, 2017-01, Vol.30 (1), p.111

2017

Link zum Volltext

Verfügbarkeit prüfen

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway

Hormone research, 2009-01, Vol.71 (4), p.185-193

2009

Link zum Volltext

Verfügbarkeit prüfen

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.894-901

2015

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 132

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(113)
Mit Volltextzugriff
(110)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(115)
Science & Technology
(115)
Humans
(95)
Endocrinology & Metabolism
(84)
Female
(69)
Male
(66)
Child
(51)
Mutation
(40)
Adolescent
(33)
Adult
(30)
Child, Preschool
(27)
Genetics & Heredity
(27)
Growth Disorders - Genetics
(25)
Phenotype
(23)
Biological And Medical Sciences
(20)
Medical Sciences
(20)
Short Stature
(19)
Pedigree
(18)
Endocrinology
(17)
Fundamental And Applied Biological Sciences. Psychology
(16)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region

Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

DLK1 Is a Novel Link Between Reproduction and Metabolism

Response to Letter to the Editor: “IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy”

Growth hormone therapy in children; research and practice – A review

Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency

A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice

A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Novel SUZ12 mutations in Weaver‐like syndrome

Response to Letter to the Editor: “A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness”

Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

Growth responses following a single intra-muscular hGH plasmid administration compared to daily injections of hGH in dwarf mice

Usefulness of MLPA in the detection of SHOX deletions

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development

A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up

Suchergebnisse filtern