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...

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

American journal of human genetics, 2016-12, Vol.99 (6), p.1325-1337

2016

Volltextzugriff (PDF)

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

American journal of human genetics, 2008-04, Vol.82 (4), p.1003-1010

2008

Volltextzugriff (PDF)

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Journal of human genetics, 2014-06, Vol.59 (6), p.300-306

2014

Volltextzugriff (PDF)

Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates

Behavioral and brain functions, 2010-05, Vol.6 (1), p.25-25

2010

Volltextzugriff (PDF)

Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization

PloS one, 2012-11, Vol.7 (11), p.e49920-e49920

2012

Volltextzugriff (PDF)

Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome

Frontiers in endocrinology (Lausanne), 2018-12, Vol.9, p.780-780

2018

Volltextzugriff (PDF)

Cognition in myotonic dystrophy type 1: a 5-year follow-up study

European journal of neurology, 2016-09, Vol.23 (9), p.1471-1476

2016

Volltextzugriff (PDF)

Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.783-790

1999

Volltextzugriff (PDF)

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Nature genetics, 2012-12, Vol.44 (12), p.1341-1348

2012

Volltextzugriff (PDF)

A randomized controlled trial of a new intervention in early symptomatic syndromes eliciting neurodevelopmental clinical examinations: PR-ESSENCE

European child & adolescent psychiatry, 2023-01, Vol.32 (1), p.63-74

2023

Volltextzugriff (PDF)

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2219-2225

2017

Volltextzugriff (PDF)

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2Mbp de novo 10q22.3q23.1 deletion

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2219

2017

Volltextzugriff (PDF)

Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis

Journal of rheumatology, 2004-11, Vol.31 (11), p.2230

2004

Volltextzugriff (PDF)

Differential Activation of Lung-specific Genes by Two Forkhead Proteins, FREAC-1 and FREAC-2 (∗)

The Journal of biological chemistry, 1996-02, Vol.271 (8), p.4482-4490

1996

Volltextzugriff (PDF)

UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.204-210

2015

Volltextzugriff (PDF)

Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability

European journal of medical genetics, 2015-02, Vol.58 (2), p.111-115

2015

Volltextzugriff (PDF)

Surfactant protein A and albumin in particles in exhaled air

Respiratory medicine, 2012-02, Vol.106 (2), p.197-204

2012

Volltextzugriff (PDF)

Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-09, Vol.147B (6), p.918-926

2008

Volltextzugriff (PDF)

Stress and well-being among parents of children with rare diseases: a prospective intervention study

Journal of advanced nursing, 2006-02, Vol.53 (4), p.392-402

2006

Volltextzugriff (PDF)

CTNND2—a candidate gene for reading problems and mild intellectual disability

Journal of medical genetics, 2015-02, Vol.52 (2), p.111-122

2015

Volltextzugriff (PDF)

Effects on airways of short-term exposure to two kinds of wood smoke in a chamber study of healthy humans

Inhalation toxicology, 2012-01, Vol.24 (1), p.47-59

2012

Volltextzugriff (PDF)

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

Human molecular genetics, 2012-12, Vol.21 (23), p.5185-5192

2012

Volltextzugriff (PDF)

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B^sub 6^-Dependent Epilepsy

American journal of human genetics, 2016-12, Vol.99 (6), p.1325

2016

Volltextzugriff (PDF)

Preschool Children's Experience and Understanding of Their Soundscape

Qualitative research in psychology, 2013-01, Vol.10 (1), p.1-13

2013

Volltextzugriff (PDF)

Significantly Earlier Age at Onset for the HLA-Cw6-positive than for the Cw6-Negative Psoriatic Sibling

Journal of investigative dermatology, 1997-11, Vol.109 (5), p.695-696

1997

Volltextzugriff (PDF)

1 – 25 von 192

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(188)
Mit Volltextzugriff
(165)

Publikationsform

Artikel
(191)
Dissertationen
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates

Centrosomal localization of the psoriasis candidate gene product, CCHCR1, supports a role in cytoskeletal organization

Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome

Cognition in myotonic dystrophy type 1: a 5-year follow-up study

Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

A randomized controlled trial of a new intervention in early symptomatic syndromes eliciting neurodevelopmental clinical examinations: PR-ESSENCE

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2Mbp de novo 10q22.3q23.1 deletion

Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis

Differential Activation of Lung-specific Genes by Two Forkhead Proteins, FREAC-1 and FREAC-2 (∗)

UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene

Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability

Surfactant protein A and albumin in particles in exhaled air

Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms

Stress and well-being among parents of children with rare diseases: a prospective intervention study

CTNND2—a candidate gene for reading problems and mild intellectual disability

Effects on airways of short-term exposure to two kinds of wood smoke in a chamber study of healthy humans

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B^sub 6^-Dependent Epilepsy

Preschool Children's Experience and Understanding of Their Soundscape

Significantly Earlier Age at Onset for the HLA-Cw6-positive than for the Cw6-Negative Psoriatic Sibling

Suchergebnisse filtern