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...

FIP1L1-PDGFRA in eosinophilic disorders: Prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature

Leukemia research, 2006-08, Vol.30 (8), p.965-970

2006

Volltextzugriff (PDF)

Germline origins in the human F9 gene : frequent G:C→A:T mosaicism and increased mutations with advanced maternal age

Human genetics, 1999-12, Vol.105 (6), p.629-640

1999

Volltextzugriff (PDF)

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

Prenatal diagnosis, 2000-02, Vol.20 (2), p.144-148

2000

Volltextzugriff (PDF)

Anaplastic astroblastoma-sarcoma in neurofibromatosis Type 1

Clinical neuropathology, 2010-09, Vol.29 (5), p.289-296

2010

Volltextzugriff (PDF)

Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects

Thrombosis and haemostasis, 1995-12, Vol.74 (6), p.1416-1422

1995

Volltextzugriff (PDF)

The pattern of spontaneous germ-line mutation : relative rates of mutation at or near CpG dinucleotides in the factor IX gene

Human genetics, 1993-06, Vol.91 (5), p.496-503

1993

Volltextzugriff (PDF)

Haemophilia B Brandenberg‐type promoter mutation

Haemophilia : the official journal of the World Federation of Hemophilia, 1999-01, Vol.5 (1), p.73-75

1999

Volltextzugriff (PDF)

Oncocytic choroid plexus carcinoma: case report

Clinical neuropathology, 2010-01, Vol.29 (1), p.14-20

2010

Volltextzugriff (PDF)

Absence of somatic mosaicism in 17 families with hemophilia B : an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels

Human genetics, 1996-11, Vol.98 (5), p.539-545

1996

Volltextzugriff (PDF)

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

Human genetics, 1990-04, Vol.84 (5), p.387-390

1990

Volltextzugriff (PDF)

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Human mutation, 1999, Vol.13 (3), p.221-231

1999

Volltextzugriff (PDF)

Missense mutations and the magnitude of functional deficit : the example of factor IX

Human genetics, 1992-05, Vol.89 (3), p.295-297

1992

Volltextzugriff (PDF)

T296→M, a common mutation causing mild hemophilia B in the amish and others ; founder effect, variability in factor IX activity assays, and rapid carrier detection

Human genetics, 1991-07, Vol.87 (3), p.333-337

1991

Volltextzugriff (PDF)

Cryptic dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations

Human genetics, 1994-03, Vol.93 (3), p.357-358

1994

Volltextzugriff (PDF)

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

Nucleic acids research, 1989-12, Vol.17 (23), p.10139-10139

1989

Volltextzugriff (PDF)

Mutations at arginine residues in two Asian hemophilia B patients

Nucleic acids research, 1990-04, Vol.18 (7), p.1924-1924

1990

Volltextzugriff (PDF)

DUSP22 AND TP63 REARRANGEMENTS PREDICT OUTCOME OF ALK‐NEGATIVE ANAPLASTIC LARGE CELL LYMPHOMA: A DANISH COHORT STUDY

Hematological oncology, 2017-06, Vol.35 (S2), p.391-392

2017

Volltextzugriff (PDF)

Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern

Human mutation, 1998, Vol.11 (5), p.372-376

1998

Volltextzugriff (PDF)

Molecular diagnosis of Ewing's sarcoma/primitive neuroectodermal tumor in formalin-fixed paraffin-embedded tissues by RT-PCR and fluorescence in situ hybridization

Diagnostic molecular pathology, 2005-03, Vol.14 (1), p.23

2005

Volltextzugriff (PDF)

Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence

The American journal of surgical pathology, 2006-01, Vol.30 (1), p.42-49

2006

Volltextzugriff (PDF)

Deletions with inversions: Report of a mutation and review of the literature

Human mutation, 1993, Vol.2 (1), p.53-57

1993

Volltextzugriff (PDF)

Primary myelodysplastic syndrome with normal cytogenetics: utility of ‘FISH panel testing’ and M-FISH

Leukemia research, 2002-03, Vol.26 (3), p.235-240

2002

Volltextzugriff (PDF)

PRE: a novel element with the hallmarks of a retrotransposon derived from an unknown structural RNA

Nucleic acids research, 1992-10, Vol.20 (19), p.5233-5233

1992

Volltextzugriff (PDF)

del(5q) in myeloid neoplasms

Atlas of genetics and cytogenetics in oncology and haematology, 2011-11 (3)

2011

Volltextzugriff (PDF)

Reported In Vivo Splice-Site Mutations in the Factor IX Gene: Severity of Splicing Defects and a Hypothesis for Predicting Deleterious Splice Donor Mutations

Human mutation, 1999-01, Vol.13 (3), p.221-231

1999

Volltextzugriff (PDF)

1 – 25 von 79

Suche als RSS-Feed

Aktive Filter

KollektionEZB Electronic Journals Library

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(70)
Mit Volltextzugriff
(64)

Publikationsform

Sprache

Englisch
(79)

Erscheinungsjahr

n.n

Thema

Science & Technology
(56)
Life Sciences & Biomedicine
(52)
Humans
(48)
Male
(29)
Female
(21)
Genetics & Heredity
(21)
Oncology
(21)
Biological And Medical Sciences
(20)
Medical Sciences
(17)
Pathology
(15)
Factor Ix - Genetics
(13)
Hematology
(12)
Adult
(11)
Biopsy
(11)
Hemophilia B - Genetics
(11)
Middle Aged
(11)
Mutation
(11)
Hematologic And Hematopoietic Diseases
(10)
In Situ Hybridization, Fluorescence
(10)
Oncogene Proteins, Fusion - Genetics
(9)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

FIP1L1-PDGFRA in eosinophilic disorders: Prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature

Germline origins in the human F9 gene : frequent G:C→A:T mosaicism and increased mutations with advanced maternal age

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

Anaplastic astroblastoma-sarcoma in neurofibromatosis Type 1

Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects

The pattern of spontaneous germ-line mutation : relative rates of mutation at or near CpG dinucleotides in the factor IX gene

Haemophilia B Brandenberg‐type promoter mutation

Oncocytic choroid plexus carcinoma: case report

Absence of somatic mosaicism in 17 families with hemophilia B : an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Missense mutations and the magnitude of functional deficit : the example of factor IX

T296→M, a common mutation causing mild hemophilia B in the amish and others ; founder effect, variability in factor IX activity assays, and rapid carrier detection

Cryptic dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

Mutations at arginine residues in two Asian hemophilia B patients

DUSP22 AND TP63 REARRANGEMENTS PREDICT OUTCOME OF ALK‐NEGATIVE ANAPLASTIC LARGE CELL LYMPHOMA: A DANISH COHORT STUDY

Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern

Molecular diagnosis of Ewing's sarcoma/primitive neuroectodermal tumor in formalin-fixed paraffin-embedded tissues by RT-PCR and fluorescence in situ hybridization

Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence

Deletions with inversions: Report of a mutation and review of the literature

Primary myelodysplastic syndrome with normal cytogenetics: utility of ‘FISH panel testing’ and M-FISH

PRE: a novel element with the hallmarks of a retrotransposon derived from an unknown structural RNA

del(5q) in myeloid neoplasms

Reported In Vivo Splice-Site Mutations in the Factor IX Gene: Severity of Splicing Defects and a Hypothesis for Predicting Deleterious Splice Donor Mutations

Aktive Filter

Suchergebnisse filtern