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...

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.53-71

Lapunzina, Pablo

2005

Volltextzugriff (PDF)

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

The Journal of experimental medicine, 2019-02, Vol.216 (2), p.407-418

2019

Volltextzugriff (PDF)

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

BMC pediatrics, 2024-10, Vol.24 (1), p.641-12, Article 641

2024

Volltextzugriff (PDF)

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

Nucleic acids research, 2020-11, Vol.48 (20), p.11394-11407

2020

Volltextzugriff (PDF)

CDKN1C mutations: two sides of the same coin

Trends in molecular medicine, 2014-11, Vol.20 (11), p.614-622

2014

Volltextzugriff (PDF)

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

Biology of the cell, 2011-07, Vol.103 (7), p.303-317

2011

Volltextzugriff (PDF)

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (51), p.21830-21835

2009

Volltextzugriff (PDF)

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Scientific reports, 2020-09, Vol.10 (1), p.15135-15135, Article 15135

2020

Volltextzugriff (PDF)

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Human mutation, 2012-02, Vol.33 (2), p.343-350

2012

Volltextzugriff (PDF)

A six-attribute classification of geneticmosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

Volltextzugriff (PDF)

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

Volltextzugriff (PDF)

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

American journal of human genetics, 2005-05, Vol.76 (5), p.729-749

2005

Volltextzugriff (PDF)

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Genetics in medicine, 2021-04, Vol.23 (4), p.679-688

2021

Volltextzugriff (PDF)

Worldwide distribution of genetic factors related to severity of COVID-19 infection

Annals of human biology, 2024-12, Vol.51 (1), p.2366248

2024

Volltextzugriff (PDF)

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

PloS one, 2020-04, Vol.15 (4), p.e0232216-e0232216

2020

Volltextzugriff (PDF)

New microdeletion and microduplication syndromes: A comprehensive review

Genetics and molecular biology, 2014-01, Vol.37 (1 Suppl), p.210-219

2014

Volltextzugriff (PDF)

Clinical utility gene card for: Beckwith-Wiedemann Syndrome

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.435-435

2014

Volltextzugriff (PDF)

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

PLoS genetics, 2013-03, Vol.9 (3), p.e1003358

2013

Volltextzugriff (PDF)

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Clinical epigenetics, 2022-03, Vol.14 (1), p.41, Article 41

2022

Volltextzugriff (PDF)

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

International journal of antimicrobial agents, 2019-10, Vol.54 (4), p.463-470

2019

Volltextzugriff (PDF)

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793

2016

Volltextzugriff (PDF)

Bone Dysplasias. An Atlas of Genetic Disorders of Skeletal Development (Fourth Edition)

Clinical Genetics, 2019-06, Vol.95 (6), p.739-739

Lapunzina, Pablo

2019

Volltextzugriff (PDF)

1 – 25 von 327

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(285)
Mit Volltextzugriff
(288)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(7)

Menü

Weitere Dienste

Einstellungen

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

CDKN1C mutations: two sides of the same coin

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

A six-attribute classification of geneticmosaicism

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Worldwide distribution of genetic factors related to severity of COVID-19 infection

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

New microdeletion and microduplication syndromes: A comprehensive review

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Clinical utility gene card for: Beckwith-Wiedemann Syndrome

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

Bone Dysplasias. An Atlas of Genetic Disorders of Skeletal Development (Fourth Edition)

Suchergebnisse filtern