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...

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

The Journal of pathology, 2014-12, Vol.234 (4), p.548-559

2014

Volltextzugriff (PDF)

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

The Journal of pathology, 2012-04, Vol.226 (5), p.764-774

2012

Volltextzugriff (PDF)

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

Journal of medical genetics, 2021-06, Vol.58 (6), p.362-368

2021

Volltextzugriff (PDF)

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Journal of medical genetics, 2018-01, Vol.55 (1), p.15-20

2018

Volltextzugriff (PDF)

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

Journal of medical genetics, 2014-04, Vol.51 (4), p.245-253

2014

Volltextzugriff (PDF)

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

Brain pathology (Zurich, Switzerland), 2013-01, Vol.23 (1), p.45-59

2013

Volltextzugriff (PDF)

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

American journal of human genetics, 2015-09, Vol.97 (3), p.378-388

2015

Volltextzugriff (PDF)

Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation

The New England journal of medicine, 2001-07, Vol.345 (3), p.159-164

2001

Volltextzugriff (PDF)

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol

Developmental medicine and child neurology, 2021-01, Vol.63 (1), p.104-110

2021

Volltextzugriff (PDF)

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1688-1695

2016

Volltextzugriff (PDF)

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome

BMC medical genetics, 2014-08, Vol.15 (1), Article 95

2014

Volltextzugriff (PDF)

Legius syndrome in fourteen families

Human mutation, 2011-01, Vol.32 (1), p.E1985-E1998

2011

Volltextzugriff (PDF)

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

Genes chromosomes & cancer, 2016-04, Vol.55 (4), p.350-354

2016

Volltextzugriff (PDF)

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex

Neuropathology, 2008-12, Vol.28 (6), p.577-590

2008

Volltextzugriff (PDF)

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

BMC medical genetics, 2014-08, Vol.15 (1), p.95-95

2014

Volltextzugriff (PDF)

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2)

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.293-293

2014

Volltextzugriff (PDF)

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.236-239

2012

Volltextzugriff (PDF)

A novel mutation in FGFR2

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.123-127

2015

Volltextzugriff (PDF)

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age

Gynecologic oncology, 2016-12, Vol.143 (3), p.453-459

2016

Volltextzugriff (PDF)

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.157-163

2011

Volltextzugriff (PDF)

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

European journal of human genetics : EJHG, 2001-11, Vol.9 (11), p.823-828

2001

Volltextzugriff (PDF)

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

BMC medical genetics, 2015-08, Vol.16 (1), p.61-61, Article 61

2015

Volltextzugriff (PDF)

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers

Breast cancer research : BCR, 2010-11, Vol.12 (6), Article R102

2010

Volltextzugriff (PDF)

1 – 25 von 29

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(29)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(29)

Sprache

Englisch
(29)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Breast Cancer after Prophylactic Bilateral Mastectomy in Women with a BRCA1 or BRCA2 Mutation

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome

Legius syndrome in fourteen families

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2)

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

A novel mutation in FGFR2

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers

Suchergebnisse filtern