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...

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Blood, 2012-06, Vol.119 (24), p.5888-5897

2012

Volltextzugriff (PDF)

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Nature genetics, 2011-04, Vol.43 (4), p.306-308

2011

Volltextzugriff (PDF)

Mapping of colorectal carcinoma diseases with activation of Wnt/beta-catenin signalling pathway using hierarchical clustering approach

Journal of clinical pathology, 2022-03, Vol.75 (3), p.168-175

2022

Volltextzugriff (PDF)

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Nature genetics, 2022-03, Vol.54 (3), p.349-357

2022

Volltextzugriff (PDF)

High HFE mutation incidence in idiopathic erythrocytosis

British journal of haematology, 2019-05, Vol.185 (4), p.794-795

2019

Volltextzugriff (PDF)

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Thyroid (New York, N.Y.), 2017-12, Vol.27 (12), p.1511-1522

2017

Volltextzugriff (PDF)

A new mutation of ANO6 in two familial cases of Scott syndrome

British journal of haematology, 2018-03, Vol.180 (5), p.750-752

2018

Volltextzugriff (PDF)

Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81

American journal of hematology, 2024-04

2024

Volltextzugriff (PDF)

Identification of SLC39A4 , a gene involved in acrodermatitis enteropathica

Nature genetics, 2002-07, Vol.31 (3), p.239-240

2002

Volltextzugriff (PDF)

FAM111B Mutation Is Associated With Pancreatic Cancer Predisposition

Pancreas, 2019-05, Vol.48 (5), p.e41-e42

2019

Volltextzugriff (PDF)

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman

Familial cancer, 2022-07, Vol.21 (3), p.319-324

2022

Volltextzugriff (PDF)

Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.314-323

2018

Volltextzugriff (PDF)

A dominant vimentin variant causes a rare syndrome with premature aging

European Journal of Human Genetics, 2020-09, Vol.28 (9), p.1218-1230

2020

Volltextzugriff (PDF)

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

Genes & diseases, 2024-11, Vol.11 (6), p.101130, Article 101130

2024

Volltextzugriff (PDF)

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Journal of human genetics, 2017-04, Vol.62 (5), p.569-573

2017

Volltextzugriff (PDF)

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

American journal of human genetics, 2022-08, Vol.109 (8), p.1549-1558

2022

Volltextzugriff (PDF)

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Journal of medical genetics, 2024-01, Vol.61 (1), p.47-56

2024

Volltextzugriff (PDF)

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

Cancer letters, 2015-04, Vol.359 (2), p.211-217

2015

Volltextzugriff (PDF)

First French study relative to preconception genetic testing: 1500 general population participants' opinion

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.130-130, Article 130

2021

Volltextzugriff (PDF)

Clinical utility gene card for: Biotinidase deficiency-update 2015

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.3-5

2016

Volltextzugriff (PDF)

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010

2016

Volltextzugriff (PDF)

Mapping clinicopathological entities within colorectal mucinous adenocarcinomas: a hierarchical clustering approach

Modern pathology, 2017-08, Vol.30 (8), p.1177-1189

2017

Volltextzugriff (PDF)

1 – 25 von 254

Suche als RSS-Feed

Aktive Filter

KollektionTaylor & Francis:Master (3349 titles)

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(244)
Mit Volltextzugriff
(222)

Publikationsform

Artikel
(251)
Berichte
(3)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Mapping of colorectal carcinoma diseases with activation of Wnt/beta-catenin signalling pathway using hierarchical clustering approach

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

High HFE mutation incidence in idiopathic erythrocytosis

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

A new mutation of ANO6 in two familial cases of Scott syndrome

Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81

Identification of SLC39A4 , a gene involved in acrodermatitis enteropathica

FAM111B Mutation Is Associated With Pancreatic Cancer Predisposition

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman

Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study

A dominant vimentin variant causes a rare syndrome with premature aging

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

First French study relative to preconception genetic testing: 1500 general population participants' opinion

Clinical utility gene card for: Biotinidase deficiency-update 2015

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Mapping clinicopathological entities within colorectal mucinous adenocarcinomas: a hierarchical clustering approach

Aktive Filter

Suchergebnisse filtern