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...

Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

The journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1636-E1644

2013

Volltextzugriff (PDF)

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

European journal of endocrinology, 2014-08, Vol.171 (2), p.253-262

2014

Volltextzugriff (PDF)

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

The journal of clinical endocrinology and metabolism, 2010-11, Vol.95 (11), p.E384-E391

2010

Volltextzugriff (PDF)

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2700-2706

2012

Volltextzugriff (PDF)

Growth Hormone (GH) Pharmacogenetics: Influence of GH Receptor Exon 3 Retention or Deletion on First-Year Growth Response and Final Height in Patients with Severe GH Deficiency

The journal of clinical endocrinology and metabolism, 2006-03, Vol.91 (3), p.1076-1080

2006

Volltextzugriff (PDF)

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

The journal of clinical endocrinology and metabolism, 2014-06, Vol.99 (6), p.E1097-E1103

2014

Volltextzugriff (PDF)

Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)

Clinical endocrinology (Oxford), 2013-04, Vol.78 (4), p.558-563

2013

Volltextzugriff (PDF)

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center

Pituitary, 2015-08, Vol.18 (4), p.561-567

2015

Volltextzugriff (PDF)

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

Clinical endocrinology (Oxford), 2007-01, Vol.66 (1), p.130-135

2007

Volltextzugriff (PDF)

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

European journal of endocrinology, 2010-08, Vol.163 (2), p.349-355

2010

Volltextzugriff (PDF)

46,XY disorders of sex development (DSD)

Clinical endocrinology (Oxford), 2009-02, Vol.70 (2), p.173-187

2009

Volltextzugriff (PDF)

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants

Genetics in medicine, 2019-01, Vol.21 (1), p.260-260

2019

Volltextzugriff (PDF)

Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

The journal of clinical endocrinology and metabolism, 2003-07, Vol.88 (7), p.3241-3250

2003

Volltextzugriff (PDF)

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

Archives of Endocrinology and Metabolism, 2017-12, Vol.61 (6), p.633-636

2017

Volltextzugriff (PDF)

Role of GLI2 in hypopituitarism phenotype

Journal of molecular endocrinology, 2015-06, Vol.54 (3), p.R141-R150

2015

Volltextzugriff (PDF)

The phenotypic spectrum associated with OTX2 mutations in humans

European journal of endocrinology, 2021-05, Vol.185 (1), p.121-135

2021

Volltextzugriff (PDF)

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

Journal of Pediatric Endocrinology and Metabolism, 2019-02, Vol.32 (2), p.173-179

2019

Volltextzugriff (PDF)

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

Clinical endocrinology (Oxford), 2016-09, Vol.85 (3), p.408-414

2016

Volltextzugriff (PDF)

GH Treatment in Children of Normal Height

The journal of clinical endocrinology and metabolism, 2024-09, Vol.109 (10), p.e1955-e1958

2024

Volltextzugriff (PDF)

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

Archives of Endocrinology and Metabolism, 2019-05, Vol.63 (2), p.167-174

2019

Volltextzugriff (PDF)

Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

The journal of clinical endocrinology and metabolism, 2011-04, Vol.96 (4), p.E685-E690

2011

Volltextzugriff (PDF)

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.415-420

2016

Volltextzugriff (PDF)

Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development

The Journal of urology, 2010-09, Vol.184 (3), p.1122-1127

2010

Volltextzugriff (PDF)

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

Clinical endocrinology (Oxford), 2013-04, Vol.78 (4), p.551-557

2013

Volltextzugriff (PDF)

Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism

The journal of clinical endocrinology and metabolism, 2014-09, Vol.99 (9), p.E1808-E1813

2014

Volltextzugriff (PDF)

1 – 25 von 161

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(140)
Mit Volltextzugriff
(144)

Publikationsform

Artikel
(160)
Berichte
(1)

Sprache

Englisch
(152)
Portugiesisch
(11)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(109)
Science & Technology
(109)
Humans
(106)
Endocrinology & Metabolism
(87)
Male
(84)
Female
(81)
Child
(58)
Biological And Medical Sciences
(45)
Medical Sciences
(44)
Adult
(38)
Adolescent
(36)
Mutation
(30)
Child, Preschool
(27)
Endocrinopathies
(27)
Phenotype
(19)
Fundamental And Applied Biological Sciences. Psychology
(18)
Growth Disorders - Genetics
(17)
Vertebrates: Endocrinology
(17)
Homeodomain Proteins - Genetics
(16)
Pediatrics
(15)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

Growth Hormone (GH) Pharmacogenetics: Influence of GH Receptor Exon 3 Retention or Deletion on First-Year Growth Response and Final Height in Patients with Severe GH Deficiency

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

46,XY disorders of sex development (DSD)

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants

Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

Role of GLI2 in hypopituitarism phenotype

The phenotypic spectrum associated with OTX2 mutations in humans

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

GH Treatment in Children of Normal Height

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism

Suchergebnisse filtern