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 AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

American journal of human genetics, 2013-08, Vol.93 (2), p.330-335

2013

Volltextzugriff (PDF)

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Journal of allergy and clinical immunology, 2015-11, Vol.136 (5), p.1268-1276

2015

Volltextzugriff (PDF)

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

American journal of human genetics, 2015-03, Vol.96 (3), p.440-447

2015

Volltextzugriff (PDF)

Expanding the Phenotypic Spectrum of Olmsted Syndrome

Journal of investigative dermatology, 2015-11, Vol.135 (11), p.2879-2883

2015

Volltextzugriff (PDF)

PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

Indian Dermatology Online Journal, 2021-01, Vol.12 (1), p.147-149

2021

Volltextzugriff (PDF)

Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma

Journal of investigative dermatology, 2010-02, Vol.130 (2), p.425-429

2010

Volltextzugriff (PDF)

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Nature genetics, 2013-10, Vol.45 (10), p.1244-1248

2013

Volltextzugriff (PDF)

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

Journal of dermatological science, 2007-12, Vol.48 (3), p.199-205

2007

Volltextzugriff (PDF)

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

Indian journal of dermatology, 2017-07, Vol.62 (4), p.422-426

2017

Volltextzugriff (PDF)

A Low Mutation Rate For Chloroplast Microsatellites

Genetics (Austin), 1999-10, Vol.153 (2), p.943-947

1999

Volltextzugriff (PDF)

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy—Expanding the differential diagnosis for pachyonychia congenita

Journal of dermatological science, 2013-04, Vol.70 (1), p.58-60

2013

Volltextzugriff (PDF)

A Large Mutational Study in Pachyonychia Congenita

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1018-1024

2011

Volltextzugriff (PDF)

Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India

International journal of dermatology, 2018-09, Vol.57 (9), p.e73-e75

2018

Volltextzugriff (PDF)

Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles

Journal of investigative dermatology, 2002-07, Vol.119 (1), p.32-37

2002

Volltextzugriff (PDF)

Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1025-1028

2011

Volltextzugriff (PDF)

A novel KRT6A mutation in a case of pachyonychia congenita from India

Indian journal of dermatology, venereology, and leprology, 2017-01, Vol.83 (1), p.95-98

2017

Volltextzugriff (PDF)

Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1921-1924

2012

Volltextzugriff (PDF)

Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations

Journal of investigative dermatology, 2007-03, Vol.127 (3), p.574-580

2007

Volltextzugriff (PDF)

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Journal of investigative dermatology, 2012-05, Vol.132 (5), p.1507-1510

2012

Volltextzugriff (PDF)

Synthesis of Norbornane-Fused 1,3-Dithiolanes and Evaluation of 1,3-Dithiolane-Containing Polymers as Absorbants for Mercury(II) Salts

Heterocycles, 2012, Vol.84 (2), p.1113

2012

Volltextzugriff (PDF)

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

European journal of pediatrics, 2009-10, Vol.168 (10), p.1269-1272

2009

Volltextzugriff (PDF)

Unusually direct synthesis of mono- and di-substituted tetrathiafulvalenes

Tetrahedron letters, 1999-01, Vol.40 (5), p.1061-1064

1999

Volltextzugriff (PDF)

Pachyonychia Congenita Type I Presenting with Subtle Nail Changes

Pediatric dermatology, 2009-07, Vol.26 (4), p.492-493

2009

Volltextzugriff (PDF)

Two families with Greither's syndrome caused by a keratin 1 mutation

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S225-S230

2005

Volltextzugriff (PDF)

1 – 25 von 1.525

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(1.403)
Mit Volltextzugriff
(1.295)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(1.120)
Life Sciences & Biomedicine
(847)
Humans
(687)
Male
(394)
Female
(374)
Biological And Medical Sciences
(221)
Physical Sciences
(204)
Middle Aged
(184)
Adult
(177)
Animals
(174)
Medical Sciences
(173)
Aged
(147)
Chemistry
(133)
Risk Factors
(101)
Pediatrics
(95)
General & Internal Medicine
(92)
Technology
(88)
Science & Technology - Other Topics
(87)
Biochemistry & Molecular Biology
(83)
Adolescent
(78)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Nature
(25)
Pediatrics
(22)
Blood
(21)
Canadian Family Physician
(20)
The Journal Of Pediatrics
(18)
The New England Journal Of Medicine
(18)
Cell Reports
(16)
The journal Of Pediatrics/the journal Of Pediatrics
(16)
Chemical Communications
(15)
Nature Genetics
(13)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Expanding the Phenotypic Spectrum of Olmsted Syndrome

PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

A Low Mutation Rate For Chloroplast Microsatellites

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy—Expanding the differential diagnosis for pachyonychia congenita

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

A Large Mutational Study in Pachyonychia Congenita

Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India

Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles

Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

A novel KRT6A mutation in a case of pachyonychia congenita from India

Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Synthesis of Norbornane-Fused 1,3-Dithiolanes and Evaluation of 1,3-Dithiolane-Containing Polymers as Absorbants for Mercury(II) Salts

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

Unusually direct synthesis of mono- and di-substituted tetrathiafulvalenes

Pachyonychia Congenita Type I Presenting with Subtle Nail Changes

Two families with Greither's syndrome caused by a keratin 1 mutation

Suchergebnisse filtern