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...

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

American journal of human genetics, 2013-01, Vol.92 (1), p.76-80

2013

Volltextzugriff (PDF)

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

American journal of human genetics, 2015-11, Vol.97 (5), p.661-676

2015

Volltextzugriff (PDF)

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals

Genetics in medicine, 2012-06, Vol.14 (6), p.616-619

2012

Volltextzugriff (PDF)

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

Clinical cancer research, 2012-01, Vol.18 (2), p.400-407

2012

Volltextzugriff (PDF)

Effects of PACAP on Intracellular Signaling Pathways in Human Retinal Pigment Epithelial Cells Exposed to Oxidative Stress

Journal of molecular neuroscience, 2012-11, Vol.48 (3), p.493-500

2012

Volltextzugriff (PDF)

Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations

Journal of clinical oncology, 2014-06, Vol.32 (17), p.1818-1824

2014

Volltextzugriff (PDF)

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Human mutation, 2018-11, Vol.39 (11), p.1581-1592

2018

Volltextzugriff (PDF)

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Genome medicine, 2019-12, Vol.12 (1), p.3-3, Article 3

2019

Volltextzugriff (PDF)

Inside the black box: What explains differences in the efficiencies of financial institutions?

Journal of banking & finance, 1997-07, Vol.21 (7), p.895-947

1997

Volltextzugriff (PDF)

Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome

Urology (Ridgewood, N.J.), 2012-05, Vol.79 (5), p.1187.e1-1187.e7

2012

Volltextzugriff (PDF)

TIP47 protects mitochondrial membrane integrity and inhibits oxidative-stress-induced cell death

FEBS letters, 2010-07, Vol.584 (13), p.2953-2960

2010

Volltextzugriff (PDF)

Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study

Cancer, 2015-03, Vol.121 (5), p.688-696

2015

Volltextzugriff (PDF)

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.273-276

2014

Volltextzugriff (PDF)

A study of bank efficiency taking into account risk-preferences

Journal of banking & finance, 1996-07, Vol.20 (6), p.1025-1045

Mester, Loretta J.

1996

Volltextzugriff (PDF)

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Human molecular genetics, 2024-04, Vol.33 (8), p.724-732

2024

Volltextzugriff (PDF)

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma

Molecular cancer research, 2013-09, Vol.11 (9), p.1061-1071

2013

Volltextzugriff (PDF)

Are scale economies in banking elusive or illusive?: Evidence obtained by incorporating capital structure and risk-taking into models of bank production

Journal of banking & finance, 2001-12, Vol.25 (12), p.2169-2208

2001

Volltextzugriff (PDF)

Germline PARP4 mutations in patients with primary thyroid and breast cancers

Endocrine-related cancer, 2016-03, Vol.23 (3), p.171-179

2016

Volltextzugriff (PDF)

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

American journal of human genetics, 2024-06, Vol.111 (6), p.1239-1239

2024

Volltextzugriff (PDF)

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

American journal of human genetics, 2024-04, Vol.111 (4), p.805-805

2024

Volltextzugriff (PDF)

Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing

The Journal of molecular diagnostics : JMD, 2020-03, Vol.22 (3), p.396-404

2020

Volltextzugriff (PDF)

PTEN Germline Mutations in Patients Initially Tested for Other Hereditary Cancer Syndromes: Would Use of Risk Assessment Tools Reduce Genetic Testing?

The oncologist (Dayton, Ohio), 2013-10, Vol.18 (10), p.1083-1090

2013

Volltextzugriff (PDF)

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.763-768

2011

Volltextzugriff (PDF)

1 – 25 von 574

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(453)
Mit Volltextzugriff
(402)

Publikationsform

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations

Effects of PACAP on Intracellular Signaling Pathways in Human Retinal Pigment Epithelial Cells Exposed to Oxidative Stress

Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Inside the black box: What explains differences in the efficiencies of financial institutions?

Papillary Renal Cell Carcinoma Is Associated With PTEN Hamartoma Tumor Syndrome

TIP47 protects mitochondrial membrane integrity and inhibits oxidative-stress-induced cell death

Germline PTEN, SDHB‐D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden‐like syndromes: An international, multicenter, prospective study

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

A study of bank efficiency taking into account risk-preferences

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma

Are scale economies in banking elusive or illusive?: Evidence obtained by incorporating capital structure and risk-taking into models of bank production

Germline PARP4 mutations in patients with primary thyroid and breast cancers

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing

PTEN Germline Mutations in Patients Initially Tested for Other Hereditary Cancer Syndromes: Would Use of Risk Assessment Tools Reduce Genetic Testing?

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

Suchergebnisse filtern