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...

Gain and loss of function mutations of ataxin-7 cause cilia pathology in mouse and zebrafish models

Cilia (London), 2015-07, Vol.4 (S1), p.P13-P13, Article P13

2015

Volltextzugriff (PDF)

Les surdités génétiques : première cause de surdité de perception de l’enfant

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2001-03, Vol.8 (3), p.308-312

2001

Volltextzugriff (PDF)

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

American journal of human genetics, 2000-12, Vol.67 (6), p.1592-1597

2000

Volltextzugriff (PDF)

The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon

Human molecular genetics, 2015-05, Vol.24 (9), p.2578-2593

2015

Volltextzugriff (PDF)

Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Blood, 2000-08, Vol.96 (4), p.1602-1604

2000

Volltextzugriff (PDF)

Red cell deformability and membrane protein phosphorylation in peripheral arterial disease

Clinical hemorheology and microcirculation, 2016-12, Vol.3 (5), p.433-441

2016

Volltextzugriff (PDF)

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis

Blood, 1997-07, Vol.90 (1), p.414-420

1997

Volltextzugriff (PDF)

Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis

Blood, 1997-07, Vol.90 (1), p.414-420

1997

Volltextzugriff (PDF)

A Large Deletion Within the Protein 4.1 Gene Associated With a Stable Truncated mRNA and an Unaltered Tissue-Specific Alternative Splicing

Blood, 1998-06, Vol.91 (11), p.4361-4367

1998

Volltextzugriff (PDF)

Transmission génétique de la cataracte congénitale

Journal français d'ophtalmologie, 2003-04, Vol.26 (4), p.400-408

2003

Volltextzugriff (PDF)

A Large Deletion Within the Protein 4.1 Gene Associated With a Stable Truncated mRNA and an Unaltered Tissue-Specific Alternative Splicing

Blood, 1998-06, Vol.91 (11), p.4361-4367

1998

Volltextzugriff (PDF)

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Journal of medical genetics, 2000-05, Vol.37 (5), p.368-370

2000

Volltextzugriff (PDF)

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis

British journal of haematology, 1996-06, Vol.93 (4), p.828-834

1996

Volltextzugriff (PDF)

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

American journal of hematology, 1998-05, Vol.58 (1), p.36-41

1998

Volltextzugriff (PDF)

Ankyrin Bugey: A de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis

American journal of hematology, 1997-03, Vol.54 (3), p.242-248

1997

Volltextzugriff (PDF)

Hereditary spherocytosis: from clinical to molecular defects

Haematologica (Roma), 1998-03, Vol.83 (3), p.240

1998

Volltextzugriff (PDF)

Genetic deafness:the primary cause of sensorineural hearing loss in children

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2001-03, Vol.8 (3), p.308-312

2001

Volltextzugriff (PDF)

β+-Thalassemia Intermedia

Human heredity, 2008-08, Vol.30 (5), p.324-330

2008

Volltextzugriff (PDF)

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss

European journal of human genetics : EJHG, 1999-02, Vol.7 (2), p.255-258

1999

Volltextzugriff (PDF)

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

Human mutation, 1996, Vol.8 (2), p.97-107

1996

Volltextzugriff (PDF)

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis

The Journal of pediatrics, 1998, Vol.132 (1), p.117-120

1998

Volltextzugriff (PDF)

A Deletional Frameshift Mutation in Protein 4.2 Gene (Allele 4.2 Lisboa) Associated With Hereditary Hemolytic Anemia

Blood, 1995-01, Vol.85 (1), p.250-256

1995

Volltextzugriff (PDF)

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis

British journal of haematology, 1997-12, Vol.99 (3), p.522-530

1997

Volltextzugriff (PDF)

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton

The Journal of clinical investigation, 1994-10, Vol.94 (4), p.1651-1656

1994

Volltextzugriff (PDF)

Assignment of SpαI/74 Hereditary Elliptocytosis to the α- or β-Chain of Spectrin Through In Vitro Dimer Reconstitution

Blood, 1990-05, Vol.75 (10), p.2061-2069

1990

Volltextzugriff (PDF)

1 – 25 von 141

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(125)
Mit Volltextzugriff
(101)

Publikationsform

Artikel
(141)

Sprache

Englisch
(122)
Französisch
(19)

Erscheinungsjahr

n.n

Thema

Humans
(75)
Biological And Medical Sciences
(54)
Science & Technology
(54)
Life Sciences & Biomedicine
(52)
Medical Sciences
(46)
Hematologic And Hematopoietic Diseases
(40)
Female
(39)
Anemias. Hemoglobinopathies
(37)
Diseases Of Red Blood Cells
(37)
Male
(35)
Hematology
(27)
Mutation
(25)
Pedigree
(25)
Elliptocytosis, Hereditary - Genetics
(22)
Base Sequence
(20)
Child
(20)
Adult
(18)
Molecular Sequence Data
(18)
Spectrin - Genetics
(17)
Adolescent
(14)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Gain and loss of function mutations of ataxin-7 cause cilia pathology in mouse and zebrafish models

Les surdités génétiques : première cause de surdité de perception de l’enfant

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon

Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Red cell deformability and membrane protein phosphorylation in peripheral arterial disease

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis

Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis

A Large Deletion Within the Protein 4.1 Gene Associated With a Stable Truncated mRNA and an Unaltered Tissue-Specific Alternative Splicing

Transmission génétique de la cataracte congénitale

A Large Deletion Within the Protein 4.1 Gene Associated With a Stable Truncated mRNA and an Unaltered Tissue-Specific Alternative Splicing

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

Ankyrin Bugey: A de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis

Hereditary spherocytosis: from clinical to molecular defects

Genetic deafness:the primary cause of sensorineural hearing loss in children

β+-Thalassemia Intermedia

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis

A Deletional Frameshift Mutation in Protein 4.2 Gene (Allele 4.2 Lisboa) Associated With Hereditary Hemolytic Anemia

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton

Assignment of SpαI/74 Hereditary Elliptocytosis to the α- or β-Chain of Spectrin Through In Vitro Dimer Reconstitution

Suchergebnisse filtern