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...

Cancer risks among BRCA1 and BRCA2 mutation carriers

British journal of cancer, 2007-01, Vol.96 (1), p.11-15

2007

Volltextzugriff (PDF)

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline

Annals of oncology, 2023-01, Vol.34 (1), p.33-47

2023

Volltextzugriff (PDF)

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Clinical genetics, 2016-12, Vol.90 (6), p.540-544

2016

Volltextzugriff (PDF)

Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Nature medicine, 1996-08, Vol.2 (8), p.864-870

1996

Volltextzugriff (PDF)

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

Clinical genetics, 2015-05, Vol.87 (5), p.461-466

2015

Volltextzugriff (PDF)

A Single Nucleotide Polymorphism in the RAD51 Gene Modifies Cancer Risk in BRCA2 but Not BRCA1 Carriers

Proceedings of the National Academy of Sciences - PNAS, 2001-03, Vol.98 (6), p.3232-3236

2001

Volltextzugriff (PDF)

BRCA carriers after risk-reducing bilateral salpingo-oophorectomy: menopausal hormone therapy knowledge gaps, and the impact of physicians' recommendations

Climacteric : the journal of the International Menopause Society, 2023-04, Vol.26 (2), p.154-160

2023

Volltextzugriff (PDF)

A role for TENM1 mutations in congenital general anosmia

Clinical genetics, 2016-09, Vol.90 (3), p.211-219

2016

Volltextzugriff (PDF)

Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews

Breast cancer research and treatment, 2022-05, Vol.193 (1), p.217-224

2022

Volltextzugriff (PDF)

Attitudes of couples identified through screening as carriers of Gaucher disease type 1

Clinical genetics, 2008-12, Vol.74 (6), p.566-570

2008

Volltextzugriff (PDF)

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin

Oncogene, 2010-01, Vol.29 (1), p.26-33

2010

Volltextzugriff (PDF)

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

Prenatal diagnosis, 2007-04, Vol.27 (4), p.317-321

2007

Volltextzugriff (PDF)

Genetic factors in Alzheimer's disease: A review of recent advances

Annals of neurology, 1996-12, Vol.40 (6), p.829-840

1996

Volltextzugriff (PDF)

Familial haplotyping and embryo analysis for Preimplantation Genetic Diagnosis (PGD) using DNA microarrays: a proof of principle study

Journal of assisted reproduction and genetics, 2013-12, Vol.30 (12), p.1595-1603

2013

Volltextzugriff (PDF)

Precision medicine meets public health: population screening for BRCA1 and BRCA2

JNCI : Journal of the National Cancer Institute, 2015-01, Vol.107 (1), p.420-dju420

2015

Volltextzugriff (PDF)

Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1

Human reproduction (Oxford), 2006-08, Vol.21 (8), p.2047-2051

2006

Volltextzugriff (PDF)

O-22 Embryo biopsy for PGD has no significant impact on neonatal outcome

Reproductive biomedicine online, 2013-05, Vol.26, p.S22-S22

2013

Volltextzugriff (PDF)

P-2 Overcoming limitations of single cell analysis in duplicated and GC-rich genomic regions using multiple displacement amplification for preimplantation genetic diagnosis (PGD)

Reproductive biomedicine online, 2013-05, Vol.26, p.S27-S28

2013

Volltextzugriff (PDF)

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

Gastroenterology (New York, N.Y. 1943), 2017-06, Vol.152 (8), p.1876-1880.e1

2017

Volltextzugriff (PDF)

Amyloid (Aβ) deposition in chromosome 1-linked Alzheimer's disease: The volga german families

Annals of neurology, 1997-01, Vol.41 (1), p.52-57

1997

Volltextzugriff (PDF)

O1 Preimplantation Genetic Diagnosis (PGD) for germline mosaicism

Reproductive biomedicine online, 2010, Vol.20, p.S15-S15

2010

Volltextzugriff (PDF)

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

The Lancet (British edition), 2000-08, Vol.356 (9230), p.652-653

2000

Volltextzugriff (PDF)

Successful polar body-based preimplantation genetic diagnosis for achondroplasia

Reproductive biomedicine online, 2008, Vol.16 (2), p.276-282

2008

Volltextzugriff (PDF)

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Nature genetics, 2001-01, Vol.27 (1), p.18-20

2001

Volltextzugriff (PDF)

1 – 25 von 108

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(99)
Mit Volltextzugriff
(97)

Publikationsform

Artikel
(107)
Berichte
(1)

Sprache

Englisch
(107)
Russisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Cancer risks among BRCA1 and BRCA2 mutation carriers

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

A Single Nucleotide Polymorphism in the RAD51 Gene Modifies Cancer Risk in BRCA2 but Not BRCA1 Carriers

BRCA carriers after risk-reducing bilateral salpingo-oophorectomy: menopausal hormone therapy knowledge gaps, and the impact of physicians' recommendations

A role for TENM1 mutations in congenital general anosmia

Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews

Attitudes of couples identified through screening as carriers of Gaucher disease type 1

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

Genetic factors in Alzheimer's disease: A review of recent advances

Familial haplotyping and embryo analysis for Preimplantation Genetic Diagnosis (PGD) using DNA microarrays: a proof of principle study

Precision medicine meets public health: population screening for BRCA1 and BRCA2

Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1

O-22 Embryo biopsy for PGD has no significant impact on neonatal outcome

P-2 Overcoming limitations of single cell analysis in duplicated and GC-rich genomic regions using multiple displacement amplification for preimplantation genetic diagnosis (PGD)

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

Amyloid (Aβ) deposition in chromosome 1-linked Alzheimer's disease: The volga german families

O1 Preimplantation Genetic Diagnosis (PGD) for germline mosaicism

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

Successful polar body-based preimplantation genetic diagnosis for achondroplasia

New ISSCR guidelines underscore major principles for responsible translational stem cell research

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Suchergebnisse filtern