UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 147

Sortiert nach

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Nature (London), 1991-07, Vol.352 (6333), p.337-339

1991

Volltextzugriff (PDF)

Partial sequence of a candidate gene for the Marfan syndrome

Nature (London), 1991-07, Vol.352 (6333), p.334-337

1991

Volltextzugriff (PDF)

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

The Journal of clinical investigation, 1992-05, Vol.89 (5), p.1674-1680

1992

Volltextzugriff (PDF)

PTPN11 mutations play a minor role in isolated congenital heart disease

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.146-151

2005

Volltextzugriff (PDF)

Type VI Collagen Anchors Endothelial Basement Membranes by Interacting with Type IV Collagen

The Journal of biological chemistry, 1997-10, Vol.272 (42), p.26522-26529

1997

Volltextzugriff (PDF)

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

Genomics (San Diego, Calif.), 1991-10, Vol.11 (2), p.346-351

1991

Volltextzugriff (PDF)

Calcium binding, hydroxylation, and glycosylation of the precursor epidermal growth factor-like domains of fibrillin-1, the Marfan gene protein

The Journal of biological chemistry, 1994-10, Vol.269 (43), p.26630-26634

1994

Volltextzugriff (PDF)

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease

Journal of inherited metabolic disease, 1995-09, Vol.18 (5), p.620-623

1995

Volltextzugriff (PDF)

Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia

Circulation (New York, N.Y.), 1998-05, Vol.97 (18), p.1780-1783

1998

Volltextzugriff (PDF)

A BamHI polymorphism at the fibrillin (FBN) locus

Nucleic acids research, 1991-08, Vol.19 (15), p.4309-4309

1991

Volltextzugriff (PDF)

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

American journal of human genetics, 2003-04, Vol.72 (4), p.1047-1052

2003

Volltextzugriff (PDF)

Role of the community pharmacist in the care of patients with chronic schizophrenia in the community

The International journal of pharmacy practice, 1996-12, Vol.4 (4), p.187-195

1996

Volltextzugriff (PDF)

Angiotensin-converting enzyme and cardiovascular disease risk

Current opinion in lipidology, 1999-10, Vol.10 (5), p.407-416

1999

Volltextzugriff (PDF)

Molecular genetics of atrioventricular septal defects

Current opinion in cardiology, 2004-05, Vol.19 (3), p.205-210

Maslen, Cheryl L

2004

Volltextzugriff (PDF)

Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

Molecular genetics and metabolism, 2001-01, Vol.72 (1), p.67-71

2001

Volltextzugriff (PDF)

Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia

Circulation (New York, N.Y.), 1998-05, Vol.97 (18), p.1780-1783

1998

Volltextzugriff (PDF)

The molecular basis of Marfan syndrome

DNA and cell biology, 1993-09, Vol.12 (7), p.561

1993

Volltextzugriff (PDF)

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

Gene, 2002-06, Vol.293 (1-2), p.47-57

2002

Volltextzugriff (PDF)

CRELD2: Gene mapping, alternate splicing, and comparative genomic identification of the promoter region

Gene, 2006-11, Vol.382, p.111-120

2006

Volltextzugriff (PDF)

Smith-Lemli-Opitz Syndrome: A Multiple Malformation/Mental Retardation Syndrome Caused By Defective Cholesterol Synthesis

The Endocrinologist (Baltimore, Md.), 2000-09, Vol.10 (5), p.300-313

2000

Volltextzugriff (PDF)

Seven polymorphic loci mapping to human chromosomal region 11q22-qter

Genomics (San Diego, Calif.), 1988, Vol.2 (1), p.66-75

1988

Volltextzugriff (PDF)

Enhanced oxidative metabolism of neutrophils from patients with systemic sclerosis

British journal of rheumatology, 1987-04, Vol.26 (2), p.113-117

1987

Volltextzugriff (PDF)

The oxidation of serum sulph-hydryl groups by hydrogen peroxide secreted by stimulated phagocytic cells in rheumatoid arthritis

Rheumatology international, 1984, Vol.4 (1), p.35-38

1984

Volltextzugriff (PDF)

A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome

Genetic testing, 1999, Vol.3 (4), p.361-363

1999

Volltextzugriff (PDF)

Routine Use of Liquid Urea Medium for Identifying Salmonella and Shigella Organisms

BMJ, 1952-09, Vol.2 (4783), p.545-546

Maslen, L. G. C.

1952

Volltextzugriff (PDF)

1 – 25 von 147

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(130)
Mit Volltextzugriff
(133)

Publikationsform

Sprache

Englisch
(146)
Japanisch
(28)

Erscheinungsjahr

n.n

Thema

Science & Technology
(115)
Humans
(87)
Life Sciences & Biomedicine
(83)
Female
(35)
Male
(34)
Biological And Medical Sciences
(33)
Adult
(27)
Animals
(27)
Genetics & Heredity
(27)
Medical Sciences
(26)
Biochemistry & Molecular Biology
(24)
Multidisciplinary Sciences
(19)
Mutation
(19)
Science & Technology - Other Topics
(19)
Adolescent
(16)
Molecular Sequence Data
(15)
Cardiovascular System & Cardiology
(14)
Amino Acid Sequence
(13)
Cardiac & Cardiovascular Systems
(13)
Child
(13)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Partial sequence of a candidate gene for the Marfan syndrome

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

PTPN11 mutations play a minor role in isolated congenital heart disease

Type VI Collagen Anchors Endothelial Basement Membranes by Interacting with Type IV Collagen

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

Calcium binding, hydroxylation, and glycosylation of the precursor epidermal growth factor-like domains of fibrillin-1, the Marfan gene protein

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease

Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia

A BamHI polymorphism at the fibrillin (FBN) locus

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Role of the community pharmacist in the care of patients with chronic schizophrenia in the community

Angiotensin-converting enzyme and cardiovascular disease risk

Molecular genetics of atrioventricular septal defects

Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia

The molecular basis of Marfan syndrome

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins

CRELD2: Gene mapping, alternate splicing, and comparative genomic identification of the promoter region

Smith-Lemli-Opitz Syndrome: A Multiple Malformation/Mental Retardation Syndrome Caused By Defective Cholesterol Synthesis

Seven polymorphic loci mapping to human chromosomal region 11q22-qter

Enhanced oxidative metabolism of neutrophils from patients with systemic sclerosis

The oxidation of serum sulph-hydryl groups by hydrogen peroxide secreted by stimulated phagocytic cells in rheumatoid arthritis

A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome

Routine Use of Liquid Urea Medium for Identifying Salmonella and Shigella Organisms

Suchergebnisse filtern