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...

Mutations in NALP12 cause hereditary periodic fever syndromes

Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (5), p.1614-1619

2008

Volltextzugriff (PDF)

The resistance of wood modified with linear chain carboxylic acid anhydrides to attack by the marine wood borer Limnoria quadripunctata Holthius

International biodeterioration & biodegradation, 2008-03, Vol.61 (2), p.199-202

2008

Volltextzugriff (PDF)

Alternatively Spliced Forms in the Cytoplasmic Domain of the Human Growth Hormone (GH) Receptor Regulate Its Ability to Generate a Soluble GH-Binding Protein

Proceedings of the National Academy of Sciences - PNAS, 1996-10, Vol.93 (20), p.10723-10728

1996

Volltextzugriff (PDF)

Mutation hypomorphe de SFTPB associée à des fibroses pulmonaires viables à l’âge adulte

Revue des maladies respiratoires actualités, 2024-01, Vol.16 (1), p.228

2024

Volltextzugriff (PDF)

Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC

Journal of medical genetics, 2004-03, Vol.41 (3), p.e24-24

2004

Volltextzugriff (PDF)

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization

The EMBO journal, 1994-03, Vol.13 (6), p.1386-1395

1994

Volltextzugriff (PDF)

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

American journal of human genetics, 2001-11, Vol.69 (5), p.961-968

2001

Volltextzugriff (PDF)

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

The Journal of clinical investigation, 1992-09, Vol.90 (3), p.1032-1036

1992

Volltextzugriff (PDF)

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution. A novel mechanism accounting for protein diversity between and within species

The Journal of biological chemistry, 2000-06, Vol.275 (25), p.18664-18669

2000

Volltextzugriff (PDF)

Mutation en mosaïque de NLRP3 dans des urticaires neutrophiliques avec fièvre: une nouvelle entité

Annales de dermatologie et de vénéréologie, 2019-12, Vol.146 (12), p.A76-A77

2019

Volltextzugriff (PDF)

B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer

American journal of respiratory and critical care medicine, 2016-01, Vol.193, p.1

2016

Volltextzugriff (PDF)

Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer

American journal of respiratory and critical care medicine, 2016, Vol.193

2016

Volltextzugriff (PDF)

Defective Membrane Expression of Human Growth Hormone (GH) Receptor Causes Laron-Type GH Insensitivity Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1991-11, Vol.88 (22), p.10272-10276

1991

Volltextzugriff (PDF)

Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

American journal of human genetics, 2000-11, Vol.67 (5), p.1136-1143

2000

Volltextzugriff (PDF)

The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65

The Journal of biological chemistry, 2003-12, Vol.278 (49), p.48839-48847

2003

Volltextzugriff (PDF)

A naturally occurring growth hormone receptor mutation : in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily

Molecular endocrinology (Baltimore, Md.), 1993-06, Vol.7 (6), p.806-814

1993

Volltextzugriff (PDF)

A new c‐kit mutation in a case of aggressive mast cell disease

British journal of haematology, 1997-02, Vol.96 (2), p.374-376

1997

Volltextzugriff (PDF)

Human Prop-1: cloning, mapping, genomic structure: Mutations in familial combined pituitary hormone deficiency

FEBS letters, 1998-10, Vol.437 (3), p.216-220

1998

Volltextzugriff (PDF)

Frequent detection of minimal residual disease by use of the polymerase chain reaction in long-term survivors after bone marrow transplantation for chronic myeloid leukemia

Leukemia, 1990-02, Vol.4 (2), p.83-86

1990

Volltextzugriff (PDF)

P02-014 - Consequences of Arginine 92 mutations in TNFR1

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A121-A121, Article A121

2013

Volltextzugriff (PDF)

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus

Human molecular genetics, 2000-12, Vol.9 (20), p.3001-3009

2000

Volltextzugriff (PDF)

OR2-002 – The risk of FMF in MEFV heterozygotes

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A2-A2, Article A2

2013

Volltextzugriff (PDF)

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A265-A265, Article A265

2013

Volltextzugriff (PDF)

Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

American journal of human genetics, 1999-08, Vol.65 (2), p.463-473

1999

Volltextzugriff (PDF)

The insulin-like growth factor I generation test in the investigation of short stature

Acta Paediatrica, 1994-04, Vol.83 (s399), p.128-130

1994

Volltextzugriff (PDF)

1 – 25 von 377

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(254)
Mit Volltextzugriff
(200)

Publikationsform

Sprache

Englisch
(232)
Französisch
(145)

Erscheinungsjahr

n.n

Thema

Humans
(235)
Science & Technology
(159)
Life Sciences & Biomedicine
(151)
Female
(127)
Male
(121)
Middle Aged
(91)
Adult
(89)
Biological And Medical Sciences
(79)
Aged
(72)
Medical Sciences
(67)
Surgery
(36)
Sciences Biologiques Et Medicales
(32)
Sciences Medicales
(32)
Rheumatology
(31)
Transplantation
(31)
Adolescent
(29)
Immunology
(29)
Child
(21)
Prospective Studies
(20)
Surgery . Transplantations, Organ And Tissue Grafts. Graft Diseases
(20)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mutations in NALP12 cause hereditary periodic fever syndromes

The resistance of wood modified with linear chain carboxylic acid anhydrides to attack by the marine wood borer Limnoria quadripunctata Holthius

Alternatively Spliced Forms in the Cytoplasmic Domain of the Human Growth Hormone (GH) Receptor Regulate Its Ability to Generate a Soluble GH-Binding Protein

Mutation hypomorphe de SFTPB associée à des fibroses pulmonaires viables à l’âge adulte

Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH‐binding activity by abolishing receptor homodimerization

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution. A novel mechanism accounting for protein diversity between and within species

Mutation en mosaïque de NLRP3 dans des urticaires neutrophiliques avec fièvre: une nouvelle entité

B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer

Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer

Defective Membrane Expression of Human Growth Hormone (GH) Receptor Causes Laron-Type GH Insensitivity Syndrome

Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65

A naturally occurring growth hormone receptor mutation : in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily

A new c‐kit mutation in a case of aggressive mast cell disease

Human Prop-1: cloning, mapping, genomic structure: Mutations in familial combined pituitary hormone deficiency

Frequent detection of minimal residual disease by use of the polymerase chain reaction in long-term survivors after bone marrow transplantation for chronic myeloid leukemia

P02-014 - Consequences of Arginine 92 mutations in TNFR1

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus

OR2-002 – The risk of FMF in MEFV heterozygotes

OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

The insulin-like growth factor I generation test in the investigation of short stature

Suchergebnisse filtern