UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 281

Sortiert nach

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Orphanet journal of rare diseases, 2007-01, Vol.2 (1), p.5-5, Article 5

2007

Volltextzugriff (PDF)

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Journal of bone and mineral research, 2003-12, Vol.18 (12), p.2095-2104

2003

Volltextzugriff (PDF)

Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518

2015

Volltextzugriff (PDF)

Brachydactyly type A2 associated with a defect in proGDF5 processing

Human molecular genetics, 2008-05, Vol.17 (9), p.1222-1233

2008

Volltextzugriff (PDF)

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

Human molecular genetics, 2002-09, Vol.11 (18), p.2119-2127

2002

Volltextzugriff (PDF)

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.305-312

2010

Volltextzugriff (PDF)

Ship funds as a new asset class: An empirical analysis of the relationship between spot and forward prices in freight markets

Journal of asset management, 2008-07, Vol.9 (2), p.102-120

2008

Volltextzugriff (PDF)

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

European journal of human genetics : EJHG, 2000-01, Vol.8 (1), p.54-62

2000

Volltextzugriff (PDF)

Childhood overgrowth in patients with common NF1 microdeletions

European journal of human genetics : EJHG, 2005-07, Vol.13 (7), p.883-888

2005

Volltextzugriff (PDF)

Identification of copy number variants associated with BPES-like phenotypes

Human genetics, 2008-12, Vol.124 (5), p.489-498

2008

Volltextzugriff (PDF)

DHPLC mutation analysis of phenylketonuria

Molecular genetics and metabolism, 2003-03, Vol.78 (3), p.205-210

2003

Volltextzugriff (PDF)

TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations

American journal of medical genetics, 2004-05, Vol.127A (1), p.104-107

2004

Volltextzugriff (PDF)

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.37-42

2003

Volltextzugriff (PDF)

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Journal of bone and mineral research, 2003-12, Vol.18 (12), p.2095

2003

Volltextzugriff (PDF)

Die klinische Bedeutung endogener Opioide

Pharmazie in unserer Zeit, 1989, Vol.18 (5), p.146-152

Seidel, Jörg

1989

Volltextzugriff (PDF)

Selen bei Phenylketonuriepatienten: Effekte einer Natriumselenitsubstitution

Medizinische Klinik (München. 1983), 1997-09, Vol.92 (S3), p.31-34

1997

Volltextzugriff (PDF)

Autorenverzeichnis

Fachwissen Osteologie, 2018, p.vii-xi

2018

Volltextzugriff (PDF)

Analysing students' self‐assessment practice in a distance education environment: Student behaviour, accuracy, and task‐related characteristics

Journal of computer assisted learning, 2024-04, Vol.40 (2), p.654-666

2024

Volltextzugriff (PDF)

High precision FRET studies reveal reversible transitions in nucleosomes between microseconds and minutes

Nature communications, 2018-11, Vol.9 (1), p.4628-13, Article 4628

2018

Volltextzugriff (PDF)

China & Innovation: Was Der Deutsche Mittelstand Von China Lernen Kann

1st Aufl 2023rd edition, 2023

Volltextzugriff (PDF)

Radiation Hardness and Self-Healing of Perovskite Solar Cells

Advanced materials (Weinheim), 2016-10, Vol.28 (39), p.8726-8731

2016

Volltextzugriff (PDF)

Surface chemistry models for low temperature Si epitaxy process simulation in a single-wafer reactor

Journal of vacuum science & technology. A, Vacuum, surfaces, and films, 2024-03, Vol.42 (2)

2024

Volltextzugriff (PDF)

Nucleosome Disassembly Intermediates Characterized by Single-Molecule FRET

Proceedings of the National Academy of Sciences - PNAS, 2009-09, Vol.106 (36), p.15308-15313

2009

Volltextzugriff (PDF)

1 – 25 von 281

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(130)
Mit Volltextzugriff
(255)

Publikationsform

Artikel
(133)
Buchkapitel
(115)
Bücher
(18)
Tagungsberichte
(13)
Reviews
(1)
Texte
(1)

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Englisch
(147)
Deutsch
(140)
Japanisch
(17)

Erscheinungsjahr

n.n

Thema

Science & Technology
(128)
Life Sciences & Biomedicine
(81)
Humans
(47)
Technology
(35)
Physical Sciences
(31)
Management & Management Techniques
(27)
Female
(25)
Male
(24)
Biochemistry & Molecular Biology
(19)
Patients
(19)
Engineering
(18)
Chemistry
(17)
Adult
(13)
Genetics & Heredity
(13)
Middle Aged
(13)
Mutation
(13)
Adolescent
(12)
Biological And Medical Sciences
(11)
Engineering, Electrical & Electronic
(11)
Materials Science
(11)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Next-generation sequencing in X-linked intellectual disability

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Brachydactyly type A2 associated with a defect in proGDF5 processing

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

Ship funds as a new asset class: An empirical analysis of the relationship between spot and forward prices in freight markets

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

Childhood overgrowth in patients with common NF1 microdeletions

Identification of copy number variants associated with BPES-like phenotypes

DHPLC mutation analysis of phenylketonuria

TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients: ASS MUTATIONS IN CITRULLINEMIA

Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Die klinische Bedeutung endogener Opioide

Selen bei Phenylketonuriepatienten: Effekte einer Natriumselenitsubstitution

Autorenverzeichnis

Analysing students' self‐assessment practice in a distance education environment: Student behaviour, accuracy, and task‐related characteristics

High precision FRET studies reveal reversible transitions in nucleosomes between microseconds and minutes

China & Innovation: Was Der Deutsche Mittelstand Von China Lernen Kann

Radiation Hardness and Self-Healing of Perovskite Solar Cells

Surface chemistry models for low temperature Si epitaxy process simulation in a single-wafer reactor

Nucleosome Disassembly Intermediates Characterized by Single-Molecule FRET

Suchergebnisse filtern