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...

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

PloS one, 2022-05, Vol.17 (5)

2022

Volltextzugriff (PDF)

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

PloS one, 2022-05, Vol.17 (5), p.e0265400-e0265400

2022

Volltextzugriff (PDF)

Strong Similarities in Turkish and European Patients Diagnosed with APECED Syndrome

Turkish Journal of Endocrinology and Metabolism, 2015-09, Vol.19 (3), p.89-92

2015

Volltextzugriff (PDF)

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

Journal of clinical research in pediatric endocrinology, 2015-12, Vol.7 (4), p.323-328

2015

Volltextzugriff (PDF)

The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism

Journal of clinical research in pediatric endocrinology, 2015-09, Vol.7 (3), p.238-241

2015

Volltextzugriff (PDF)

Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

Pediatric cardiology, 2013-12, Vol.34 (8), p.2063-2067

2013

Volltextzugriff (PDF)

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Journal of clinical research in pediatric endocrinology, 2014-09, Vol.6 (3), p.169-173

2014

Volltextzugriff (PDF)

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Human mutation, 2012-12, Vol.33 (12), p.1656-1664

2012

Volltextzugriff (PDF)

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Clinical endocrinology (Oxford), 2013-08, Vol.79 (2), p.275-281

2013

Volltextzugriff (PDF)

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

Turkish journal of pediatrics, 2009-03, Vol.51 (2), p.161-165

2009

Volltextzugriff (PDF)

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

Journal of Pediatric Endocrinology and Metabolism, 2014-03, Vol.27 (3-4), p.323

2014

Volltextzugriff (PDF)

Puberty, stress, and sudden death

The Lancet (British edition), 2010-10, Vol.376 (9751), p.1512-1512

2010

Volltextzugriff (PDF)

Jervell and Lange-Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

Pediatric cardiology, 2013-12, Vol.34 (8), p.2063

2013

Volltextzugriff (PDF)

Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers

BMC genetics, 2004-09, Vol.5, p.27

Cangul, Hakan

2004

Volltextzugriff (PDF)

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Journal of Pediatric Endocrinology and Metabolism, 2012, Vol.25 (5), p.419-426

2012

Volltextzugriff (PDF)

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3085-3090

2017

Volltextzugriff (PDF)

Nanoparticle growth and surface chemistry changes in cell-conditioned culture medium

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2015-02, Vol.370 (1661), p.20140100

2015

Volltextzugriff (PDF)

Turkish perspective of Jervell and Lange-Nielsen syndrome

Annals of the Indian Academy of Neurology, 2013-01, Vol.16 (1), p.129-130

2013

Volltextzugriff (PDF)

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4521-4531

2016

Volltextzugriff (PDF)

PLA2G6 , encoding a phospholipase A 2 , is mutated in neurodegenerative disorders with high brain iron

Nature genetics, 2006-07, Vol.38 (7), p.752-754

2006

Volltextzugriff (PDF)

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Endocrine, 2014-03, Vol.45 (2), p.206-212

2014

Volltextzugriff (PDF)

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

Journal of Pediatric Endocrinology and Metabolism, 2013, Vol.26 (1-2), p.191-191

2013

Volltextzugriff (PDF)

1 – 25 von 51

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(47)
Mit Volltextzugriff
(37)

Publikationsform

Artikel
(50)
Dissertationen
(1)

Sprache

Englisch
(50)
Türkisch
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(37)
Life Sciences & Biomedicine
(34)
Humans
(31)
Male
(20)
Endocrinology & Metabolism
(19)
Female
(18)
Mutation
(18)
Congenital Hypothyroidism - Genetics
(17)
Pediatrics
(14)
Congenital Hypothyroidism
(11)
Pedigree
(10)
Infant, Newborn
(9)
Child
(8)
Child, Preschool
(8)
Dna Mutational Analysis
(8)
Genetics
(8)
Consanguinity
(7)
Iodide Peroxidase - Genetics
(7)
Receptors, Thyrotropin - Genetics
(7)
Genetic Aspects
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

Strong Similarities in Turkish and European Patients Diagnosed with APECED Syndrome

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism

Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

Puberty, stress, and sudden death

Jervell and Lange-Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

Hypoxia upregulates the expression of the NDRG1 gene leading to its overexpression in various human cancers

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

Nanoparticle growth and surface chemistry changes in cell-conditioned culture medium

Turkish perspective of Jervell and Lange-Nielsen syndrome

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

PLA2G6 , encoding a phospholipase A 2 , is mutated in neurodegenerative disorders with high brain iron

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

Suchergebnisse filtern