Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. - Wikidata - awgldk - TriplyDB

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

http://www.wikidata.org/entity/Q34166045

about

Interventions for congenital ichthyosis Recent advances in understanding ichthyosis pathogenesis Harlequin ichthyosis in a neonate born with assisted reproductive technology: a case report.Care of the newborn with ichthyosis.Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.Inherited ichthyoses/generalized Mendelian disorders of cornification.Systemic retinoids in the management of ichthyoses and related skin types.Harlequin ichthyosis: Case report.Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.Role of ABC transporters in lipid transport and human disease.Recent advances in the genetics and management of harlequin ichthyosis.Discovery in genetic skin disease: the impact of high throughput genetic technologies Congenital Ichthyosis: A Case Treated Successfully With Acitretin.Harlequin ichthyosis: a case report of prolonged survival.Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.A profile of lipid dysregulation in harlequin ichthyosis.Harlequin ichthyosis in an infant born to a father with eczema.Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis.A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

P2860

Q24194413-E79C1F5E-6545-46DC-B113-0F2452D5775D Q26740640-B7624CBF-C984-48FD-9DC6-860B708E83D0 Q33571665-26CC0DBB-B86B-43A9-87FB-86757F18576B Q34035416-2A9DF3DA-0470-47DE-8DEB-B28CB52D39C4 Q34342301-9C1D99FD-6902-4429-96F7-D61E23093BA7 Q35539200-132F8372-78F9-4D33-A6A4-33C6052F8F08 Q35712815-B7AA8032-4569-40A2-B81B-AB9688932408 Q36543023-863884C3-2A7C-4989-9156-479B16A66A73 Q37448896-98EC3F0A-1C4A-43F9-AB2A-7F27ABF63190 Q37531871-97E3CFCC-8FCC-4BCB-8C65-1196309DACB6 Q37603229-9205B8A1-12F9-439D-8285-9213BA7EEA62 Q38032194-5A49FA8A-CCCF-4D08-A51C-6D8EB18B2FA2 Q38082105-997FE8B6-FECD-4C67-B2CC-4A5B25F437E4 Q38219629-BFFBB25E-1D16-4B58-B5BC-F4AE808B39BF Q38237121-ECAAF315-4FCD-4169-9187-9486C6724211 Q41810861-50A7E014-F672-4DCF-A1FB-0636529A4C02 Q41825188-660ED202-260B-454D-8B04-CC91A659E8F5 Q43861652-25FAAAA4-A357-4B2F-81DE-410BCF8CFF91 Q44260668-29D708A6-3B55-4CA8-9C82-424CEA1BB5B4 Q47194658-F22727E0-9409-437E-8A42-8728E8A008EB Q48125295-C36A1899-5D4E-41FB-A564-A7750DCE772C Q48159866-67365D00-9B86-4007-9538-4317BF37F5FA Q52656179-ED99E5F9-2915-4244-A954-46FB3AB5347D Q52659034-F7D06B72-1981-4D7D-8C8E-6924A3CD7FA0 Q53072754-5F69D61B-B2C4-4055-A73A-B2889ECD50FE Q55185637-D3EE67ED-8C65-4AB3-8810-2CB205D5A016 Q57135294-A3DB3B15-CC0F-4C5F-9AA6-B2BC180329AD

P2860

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

http://www.wikidata.org/entity/Q34166045

description

2011 nî lūn-bûn

@nan

2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@ast

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@en

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@nl

type

label

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@ast

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@en

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@nl

prefLabel

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@ast

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@en

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@nl

P1433

Q34166045-0E650088-D482-4E3F-9B93-F6407BEEE62A

P1476

Q34166045-BDAF3BA0-7D97-4904-91B4-E29168AA8D38

P2093

Q34166045-014F9A81-9B92-4A4F-B270-9726FF7BDC26

Q34166045-10A58E41-C654-4D12-8E15-0B78C340589F

Q34166045-15B54A13-16E6-4E63-AD44-830F8C258F39

Q34166045-19D51E69-42D5-471D-A397-56544391835C

Q34166045-38874449-B606-4252-833E-6E5B60F025B8

Q34166045-393AAD11-C386-4519-8282-8EDBF6EA7A26

Q34166045-39A091BA-0610-4A54-AD21-995414F370CE

Q34166045-4024FA52-DCC9-4A15-A44F-F098AE779598

Q34166045-4ADD74C0-A581-4C35-A05B-24505502BFD7

Q34166045-587E4008-F180-4A4B-BD20-933881A4EBAA

P304

Q34166045-BBA1B882-73E6-4ADB-A7EA-66E652FE2B84

P31

Q34166045-2272AF9F-6267-4919-AD2E-3F450B780EAE

P356

Q34166045-82BDF9EE-1E84-4DEC-BAA0-9688BA078B72

P433

Q34166045-912DE874-AD74-40A9-92C3-F38A16388B3A

P478

Q34166045-0854288A-797C-46B1-A9FC-260E8F2C6DF6

P50

Q34166045-2A07EEFA-BD7B-437C-8E46-188214E4BE4E

Q34166045-6872E7FB-F4AC-48CD-B94E-2E407FD56750

P577

Q34166045-D72BCD19-1979-4A56-882D-6CE429591213

P698

Q34166045-F74989BE-B17B-4F51-ADEC-6F8BA6705380

P356

ARCHDERMATOL.2011.9

P1433

JAMA Dermatology

P1476

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

@en

P2093

Agneta Gånemo

http://www.w3.org/2001/XMLSchema#string

Aileen Taylor

http://www.w3.org/2001/XMLSchema#string

Anders Vahlquist

http://www.w3.org/2001/XMLSchema#string

Andrew Ilchyshyn

http://www.w3.org/2001/XMLSchema#string

Cameron Kennedy

http://www.w3.org/2001/XMLSchema#string

Carol Chu

http://www.w3.org/2001/XMLSchema#string

Celia Moss

http://www.w3.org/2001/XMLSchema#string

David Everman

http://www.w3.org/2001/XMLSchema#string

David Paige

http://www.w3.org/2001/XMLSchema#string

Diana Purvis

http://www.w3.org/2001/XMLSchema#string

P304

681-686

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1001/ARCHDERMATOL.2011.9

http://www.w3.org/2001/XMLSchema#string

P433

6

http://www.w3.org/2001/XMLSchema#string

P478

147

http://www.w3.org/2001/XMLSchema#string

P50

David P. Kelsell

P577

2011-02-21T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

21339420

http://www.w3.org/2001/XMLSchema#string