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...

Connectedness benefits both patients and staff

BMJ (Online), 2018-10, p.k4305

Kingston, Helen M

2018

Volltextzugriff (PDF)

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

European journal of medical genetics, 2024-02, Vol.67, p.104907-104907, Article 104907

2024

Volltextzugriff (PDF)

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

American journal of human genetics, 2001-05, Vol.68 (5), p.1077-1085

2001

Volltextzugriff (PDF)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

American journal of human genetics, 2007-10, Vol.81 (4), p.713-725

2007

Volltextzugriff (PDF)

Queen Victoria's Gene: Haemophilia and the Royal Family

BMJ, 1995-10, Vol.311 (7012), p.1106-1107

Kingston, H. M

1995

Volltextzugriff (PDF)

Knowledge, views, and experience of 25 women with myotonic dystrophy

Journal of medical genetics, 1998-12, Vol.35 (12), p.1020-1025

1998

Volltextzugriff (PDF)

Elements of medical genetics (8th edn)

Trends in genetics, 1993-03, Vol.9 (3), p.95

Kingston, Helen M.

1993

Volltextzugriff (PDF)

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation

Journal of medical genetics, 1996-01, Vol.33 (1), p.69-72

1996

Volltextzugriff (PDF)

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

Neurogenetics, 1997-11, Vol.1 (2), p.95-102

1997

Volltextzugriff (PDF)

46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype

Prenatal diagnosis, 1993-07, Vol.13 (7), p.637-642

1993

Volltextzugriff (PDF)

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

American journal of medical genetics, 1995-08, Vol.60 (4), p.307-311

1995

Volltextzugriff (PDF)

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals

American journal of medical genetics, 1992-06, Vol.43 (3), p.612-618

1992

Volltextzugriff (PDF)

Clinical and Genetic Studies of Becker Muscular Dystrophy

Kingston, Helen M

1983

Volltextzugriff (PDF)

LOCALISATION OF GENE FOR BECKER MUSCULAR DYSTROPHY

The Lancet (British edition), 1983-11, Vol.322 (8360), p.1200-1200

1983

Volltextzugriff (PDF)

Autumn books -- Queen Victoria's Gene: Haemophilia and the Royal Family by D. M. Potts and W. T. W. Potts

British Medical Journal, 1995, Vol.311 (7012), p.1106

Kingston, Helen M

International edition, 1995

Volltextzugriff (PDF)

Elements of medical genetics (8th edn): by A.E.H. Emery and R.F. Mueller Churchill Livingstone, 1992, £14.95 pbk (ix + 349 pages) ISBN 0 443 04524 0

Trends in Genetics, 1993, Vol.9 (3), p.95-95

Kingston, Helen M.

1993

Volltextzugriff (PDF)

Third International Conference on Osteogenesis Imperfecta

Journal of Medical Genetics, 1990, Vol.27 (12), p.792-792

Kingston, Helen M

1990

Volltextzugriff (PDF)

A Colour Atlas of Clinical Genetics

Journal of Medical Genetics, 1984, Vol.21 (3), p.237-237

Kingston, Helen M

1984

Volltextzugriff (PDF)

Plasma puryvate kinase and creatine kinase activity in Becker muscular dystrophy

Journal of the neurological sciences, 1984-01, Vol.65 (3), p.307-314

1984

Volltextzugriff (PDF)

SKELETAL ABNORMALITIES IN MECKEL SYNDROME

Fetal and pediatric pathology, 1997-07, Vol.17 (4), p.625-630

1997

Volltextzugriff (PDF)

Dietary saturated fatty acids prime the NLRP3 inflammasome via TLR4 in dendritic cells-implications for diet-induced insulin resistance

Molecular nutrition & food research, 2012-08, Vol.56 (8), p.1212-1222

2012

Volltextzugriff (PDF)

Lack of Interleukin-1 Receptor I (IL-1RI) Protects Mice From High-Fat Diet―Induced Adipose Tissue Inflammation Coincident With Improved Glucose Homeostasis

Diabetes (New York, N.Y.), 2011-06, Vol.60 (6), p.1688-1698

2011

Volltextzugriff (PDF)

Polymers of Intrinsic Microporosity (PIMs): Bridging the Void between Microporous and Polymeric Materials

Chemistry : a European journal, 2005-04, Vol.11 (9), p.2610-2620

2005

Volltextzugriff (PDF)

Long-term exposure to a high-fat diet results in the development of glucose intolerance and insulin resistance in interleukin-1 receptor I-deficient mice

American journal of physiology: endocrinology and metabolism, 2013-10, Vol.305 (7), p.E834-E844

2013

Volltextzugriff (PDF)

1 – 25 von 87

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(82)
Mit Volltextzugriff
(81)

Publikationsform

Sprache

Englisch
(87)
Japanisch
(10)

Erscheinungsjahr

n.n

Thema

Science & Technology
(62)
Life Sciences & Biomedicine
(59)
Humans
(41)
Female
(29)
Male
(27)
Genetics & Heredity
(26)
Biological And Medical Sciences
(21)
Animals
(19)
Mutation
(18)
Medical Sciences
(17)
Mice
(15)
Child, Preschool
(14)
Phenotype
(14)
Adult
(13)
Child
(13)
Pedigree
(13)
Genetics
(12)
Infant
(12)
Adolescent
(11)
Fundamental And Applied Biological Sciences. Psychology
(9)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Connectedness benefits both patients and staff

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Queen Victoria's Gene: Haemophilia and the Royal Family

Knowledge, views, and experience of 25 women with myotonic dystrophy

Elements of medical genetics (8th edn)

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals

Clinical and Genetic Studies of Becker Muscular Dystrophy

LOCALISATION OF GENE FOR BECKER MUSCULAR DYSTROPHY

Autumn books -- Queen Victoria's Gene: Haemophilia and the Royal Family by D. M. Potts and W. T. W. Potts

Elements of medical genetics (8th edn): by A.E.H. Emery and R.F. Mueller Churchill Livingstone, 1992, £14.95 pbk (ix + 349 pages) ISBN 0 443 04524 0

Third International Conference on Osteogenesis Imperfecta

A Colour Atlas of Clinical Genetics

Plasma puryvate kinase and creatine kinase activity in Becker muscular dystrophy

SKELETAL ABNORMALITIES IN MECKEL SYNDROME

Dietary saturated fatty acids prime the NLRP3 inflammasome via TLR4 in dendritic cells-implications for diet-induced insulin resistance

Lack of Interleukin-1 Receptor I (IL-1RI) Protects Mice From High-Fat Diet―Induced Adipose Tissue Inflammation Coincident With Improved Glucose Homeostasis

Polymers of Intrinsic Microporosity (PIMs): Bridging the Void between Microporous and Polymeric Materials

Long-term exposure to a high-fat diet results in the development of glucose intolerance and insulin resistance in interleukin-1 receptor I-deficient mice

Suchergebnisse filtern