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...

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

Human molecular genetics, 2008-12, Vol.17 (23), p.3776-3783

2008

Volltextzugriff (PDF)

A candidate region for Asperger syndrome defined by two 17p breakpoints

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.189-195

2003

Volltextzugriff (PDF)

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Nature genetics, 1999-02, Vol.21 (2), p.169-175

1999

Volltextzugriff (PDF)

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.970-977

2005

Volltextzugriff (PDF)

Constitutional Downregulation of SEMA5A Expression in Autism

Neuropsychobiology, 2006-01, Vol.54 (1), p.64-69

2006

Volltextzugriff (PDF)

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

Annals of neurology, 1999-11, Vol.46 (5), p.684-692

1999

Volltextzugriff (PDF)

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.380-386

2009

Volltextzugriff (PDF)

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;qll.2) associated with hypospadias and anorectal malformation

Human genetics, 2006-03, Vol.119 (1-2), p.162-168

2006

Volltextzugriff (PDF)

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.928-934

2005

Volltextzugriff (PDF)

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Biochemical journal, 2000-07, Vol.349 (Pt 1), p.275-279

2000

Volltextzugriff (PDF)

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Human genetics, 1999-11, Vol.105 (5), p.496-500

1999

Volltextzugriff (PDF)

Missense Mutations in the Human Glutathione Synthetase Gene Result in Severe Metabolic Acidosis, 5-Oxoprolinuria, Hemolytic Anemia and Neurological Dysfunction

Human molecular genetics, 1997-07, Vol.6 (7), p.1147-1152

1997

Volltextzugriff (PDF)

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Human genetics, 1999-11, Vol.105 (5), p.496-500

1999

Volltextzugriff (PDF)

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpoint

American journal of medical genetics, 2001-12, Vol.105 (8), p.729-736

2001

Volltextzugriff (PDF)

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13

Journal of human genetics, 2004, Vol.41 (3), p.208

2004

Volltextzugriff (PDF)

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Biochemical journal, 2000-07, Vol.349 (1), p.275-279

2000

Volltextzugriff (PDF)

Cloning and Characterization of an Alternatively Spliced Gene in Proximal Xq28 Deleted in Two Patients with Intersexual Genitalia and Myotubular Myopathy

Genomics (San Diego, Calif.), 1997-05, Vol.41 (3), p.458-462

1997

Volltextzugriff (PDF)

Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency

Pediatric research, 1994-03, Vol.35 (3), p.307-310

1994

Volltextzugriff (PDF)

IMPAIRED SYNTHESIS OF CYSTEINYL LEUKOTRIENES IN GLUTATHIONE SYNTHETASE DEFICIENCY

Pediatric research, 1994-02, Vol.35 (2), p.267-267

1994

Volltextzugriff (PDF)

The binding of chondroitin sulphate to collagen

FEBS letters, 1975-08, Vol.56 (1), p.166-169

1975

Volltextzugriff (PDF)

Physical chemical characterization of percoll. II. Size and interaction of colloidal particles

Journal of colloid and interface science, 1980, Vol.76 (1), p.133-141

1980

Volltextzugriff (PDF)

Conformational Transitions of Polynucleotides in Polymer Media

European journal of biochemistry, 1974-04, Vol.43 (2), p.231-235

1974

Volltextzugriff (PDF)

Determination of hyaluronic acid in the microgram range

Analytical biochemistry, 1969-01, Vol.31 (1), p.133-145

1969

Volltextzugriff (PDF)

The future of Swedish food waste: An environmental assessment of existing and prospective valorization techniques

Journal of cleaner production, 2018-11, Vol.202, p.1-10

2018

Volltextzugriff (PDF)

p53 triggers mitochondrial apoptosis following DNA damage-dependent replication stress by the hepatotoxin methyleugenol

Cell death & disease, 2022-11, Vol.13 (11), p.1009-15, Article 1009

2022

Volltextzugriff (PDF)

1 – 25 von 46

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(46)
Mit Volltextzugriff
(43)

Publikationsform

Artikel
(46)

Sprache

Englisch
(46)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

A candidate region for Asperger syndrome defined by two 17p breakpoints

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Constitutional Downregulation of SEMA5A Expression in Autism

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;qll.2) associated with hypospadias and anorectal malformation

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Missense Mutations in the Human Glutathione Synthetase Gene Result in Severe Metabolic Acidosis, 5-Oxoprolinuria, Hemolytic Anemia and Neurological Dysfunction

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpoint

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency

Cloning and Characterization of an Alternatively Spliced Gene in Proximal Xq28 Deleted in Two Patients with Intersexual Genitalia and Myotubular Myopathy

Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency

IMPAIRED SYNTHESIS OF CYSTEINYL LEUKOTRIENES IN GLUTATHIONE SYNTHETASE DEFICIENCY

The binding of chondroitin sulphate to collagen

Physical chemical characterization of percoll. II. Size and interaction of colloidal particles

Conformational Transitions of Polynucleotides in Polymer Media

Determination of hyaluronic acid in the microgram range

The future of Swedish food waste: An environmental assessment of existing and prospective valorization techniques

p53 triggers mitochondrial apoptosis following DNA damage-dependent replication stress by the hepatotoxin methyleugenol

Suchergebnisse filtern