UB Paderborn / Katalog / Suche / in CDI

1 – 21 von 21

Sortiert nach

Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney

Scientific reports, 2017-01, Vol.7 (1), p.40601, Article 40601

2017

Volltextzugriff (PDF)

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Human molecular genetics, 2000-11, Vol.9 (18), p.2761-2766

2000

Volltextzugriff (PDF)

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (34), p.13775-13780

2012

Volltextzugriff (PDF)

Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis

The American journal of pathology, 2009-03, Vol.174 (3), p.970-978

2009

Volltextzugriff (PDF)

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

Disease models & mechanisms, 2013-03, Vol.6 (2), p.434-442

2013

Volltextzugriff (PDF)

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

Journal of medical genetics, 2006-02, Vol.43 (2), p.e05-e05

2006

Volltextzugriff (PDF)

ABCA12 Is the Major Harlequin Ichthyosis Gene

Journal of investigative dermatology, 2006-11, Vol.126 (11), p.2408-2413

2006

Volltextzugriff (PDF)

V1 and V0 Domains of the Human H+-ATPase Are Linked by an Interaction between the G and a Subunits

The Journal of biological chemistry, 2007-05, Vol.282 (19), p.14421-14427

2007

Volltextzugriff (PDF)

Hereditary 'white nails': a genetic and structural study

British journal of dermatology (1951), 2004-07, Vol.151 (1), p.65-72

2004

Volltextzugriff (PDF)

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

American journal of human genetics, 2005-05, Vol.76 (5), p.794-803

2005

Volltextzugriff (PDF)

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

BMC medical genetics, 2015-06, Vol.16 (1), p.38-38, Article 38

2015

Volltextzugriff (PDF)

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

Journal of investigative dermatology, 2006-07, Vol.126 (7), p.1651-1654

2006

Volltextzugriff (PDF)

SPINK5: both rare and common skin disease

Trends in molecular medicine, 2002, Vol.8 (1), p.7-7

2002

Volltextzugriff (PDF)

Loss of desmoplakin isoform I in skin disease and cardiomyopathy

British journal of dermatology (1951), 2004-04, Vol.150 (4), p.817

2004

Volltextzugriff (PDF)

A novel screening strategy for detecting insertion/deletion variants: applied to loricrin

British journal of dermatology (1951), 2004-04, Vol.150 (4), p.817

2004

Volltextzugriff (PDF)

Cutaneous Biology : Hereditary 'white nails': a genetic and structural study

British journal of dermatology (1951), 2004-07, Vol.151 (1), p.65-72

2004

Volltextzugriff (PDF)

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

Journal of medical genetics, 2006, Vol.43 (2), p.e5-e5

2006

Volltextzugriff (PDF)

Importance of early audiologic assessment in distal renal tubular acidosis

International medical case reports journal, 2011-01, Vol.4 (default), p.7-11

2011

Volltextzugriff (PDF)

Importance of early audiologic assessment in distal renal tubular acidosis

International medical case reports journal, 2011, Vol.4, p.7-11

2011

Volltextzugriff (PDF)

Computer simulation of edge and screw dislocations in copper

Journal of physics. F, Metal physics, 1972-07, Vol.2 (4), p.L73-L75

1972

Volltextzugriff (PDF)

ChemInform Abstract: The Coordination Chemistry of Mixed Pyridine-Phenol Ligands; Spectroscopic and Redox Properties of Mononuclear Ruthenium Complexes with (Pyridine)6-x(Phenolate)x Donor Sets (x = 1 or 2)

ChemInform, 1993-03, Vol.24 (13), p.no-no

1993

Volltextzugriff (PDF)

1 – 21 von 21

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(17)
Mit Volltextzugriff
(20)

Publikationsform

Artikel
(19)
Berichte
(2)

Sprache

Englisch
(21)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

Humans
(13)
Science & Technology
(13)
Life Sciences & Biomedicine
(10)
Male
(7)
Mutation
(7)
Dermatology
(6)
Biological And Medical Sciences
(5)
Female
(5)
Medical Sciences
(5)
Base Sequence
(4)
Genes
(4)
Genetics & Heredity
(4)
Molecular Sequence Data
(4)
Pedigree
(4)
Acidosis
(3)
Animals
(3)
Atp-Binding Cassette Transporters - Genetics
(3)
Dna Mutational Analysis
(3)
Dyskeratosis
(3)
Ichthyosis, Lamellar - Genetics
(3)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Urinary Exosomes Contain MicroRNAs Capable of Paracrine Modulation of Tubular Transporters in Kidney

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

ABCA12 Is the Major Harlequin Ichthyosis Gene

V1 and V0 Domains of the Human H+-ATPase Are Linked by an Interaction between the G and a Subunits

Hereditary 'white nails': a genetic and structural study

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

SPINK5: both rare and common skin disease

Loss of desmoplakin isoform I in skin disease and cardiomyopathy

A novel screening strategy for detecting insertion/deletion variants: applied to loricrin

Cutaneous Biology : Hereditary 'white nails': a genetic and structural study

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

Importance of early audiologic assessment in distal renal tubular acidosis

Importance of early audiologic assessment in distal renal tubular acidosis

Computer simulation of edge and screw dislocations in copper

ChemInform Abstract: The Coordination Chemistry of Mixed Pyridine-Phenol Ligands; Spectroscopic and Redox Properties of Mononuclear Ruthenium Complexes with (Pyridine)6-x(Phenolate)x Donor Sets (x = 1 or 2)

Suchergebnisse filtern