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...

Solving the Autism Puzzle a Few Pieces at a Time

Neuron (Cambridge, Mass.), 2011-06, Vol.70 (5), p.806-808

2011

Volltextzugriff (PDF)

The human clinical phenotypes of altered CHRNA7 copy number

Biochemical pharmacology, 2015-10, Vol.97 (4), p.352-362

2015

Volltextzugriff (PDF)

Quantitative real-time imaging of glutathione

Nature communications, 2017-07, Vol.8 (1), p.16087-16087, Article 16087

2017

Volltextzugriff (PDF)

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Molecular cell, 2015-09, Vol.59 (6), p.956-969

2015

Volltextzugriff (PDF)

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

Translational psychiatry, 2022-08, Vol.12 (1), p.318-318, Article 318

2022

Volltextzugriff (PDF)

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Nature genetics, 2013-11, Vol.45 (11), p.1405-1408

2013

Volltextzugriff (PDF)

Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research

Pediatric research, 2022-08, Vol.92 (2), p.373-377

2022

Volltextzugriff (PDF)

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Journal of human genetics, 2018-07, Vol.63 (7), p.795-801

2018

Volltextzugriff (PDF)

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells

American journal of human genetics, 2017-12, Vol.101 (6), p.874-887

2017

Volltextzugriff (PDF)

BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

Hereditary cancer in clinical practice, 2023-07, Vol.21 (1), p.11-11, Article 11

2023

Volltextzugriff (PDF)

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome

American journal of human genetics, 2018-02, Vol.102 (2), p.296-308

2018

Volltextzugriff (PDF)

Schaaf‐Yang syndrome overview: Report of 78 individuals

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2564-2574

2018

Volltextzugriff (PDF)

Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns

JMIR pediatrics and parenting, 2022-01, Vol.5 (1), p.e31411-e31411

2022

Volltextzugriff (PDF)

An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats

Nature communications, 2023-02, Vol.14 (1), p.1066-1066, Article 1066

2023

Volltextzugriff (PDF)

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

Journal of medical genetics, 2018-05, Vol.55 (5), p.307-315

2018

Volltextzugriff (PDF)

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

American journal of human genetics, 2014-02, Vol.94 (2), p.303-309

2014

Volltextzugriff (PDF)

Nicotinic acetylcholine receptors in human genetic disease

Genetics in medicine, 2014-09, Vol.16 (9), p.649-656

Schaaf, Christian P

2014

Volltextzugriff (PDF)

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

Cells (Basel, Switzerland), 2022-04, Vol.11 (8), p.1260

2022

Volltextzugriff (PDF)

Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2023, Vol.66 (11), p.1232-1242

2023

Volltextzugriff (PDF)

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Nature genetics, 2017-04, Vol.49 (4), p.613-617

2017

Volltextzugriff (PDF)

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration

Movement disorders, 2014-04, Vol.29 (4), p.574-575

2014

Volltextzugriff (PDF)

The adult phenotype of Schaaf-Yang syndrome

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-294, Article 294

2020

Volltextzugriff (PDF)

Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2262-n/a

2023

Volltextzugriff (PDF)

MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

Developmental medicine and child neurology, 2024-07

2024

Volltextzugriff (PDF)

1 – 25 von 197

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(172)
Mit Volltextzugriff
(177)

Publikationsform

Sprache

Englisch
(176)
Japanisch
(28)
Deutsch
(23)
Norwegisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Solving the Autism Puzzle a Few Pieces at a Time

The human clinical phenotypes of altered CHRNA7 copy number

Quantitative real-time imaging of glutathione

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells

BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome

Schaaf‐Yang syndrome overview: Report of 78 individuals

Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns

An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Nicotinic acetylcholine receptors in human genetic disease

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration

The adult phenotype of Schaaf-Yang syndrome

Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome

MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

Suchergebnisse filtern