Detalhe da pesquisa
1.
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
J Eur Acad Dermatol Venereol
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741524
2.
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.
Br J Dermatol
; 189(6): 741-749, 2023 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671665
3.
Epidemiology of inherited epidermolysis bullosa in Germany.
J Eur Acad Dermatol Venereol
; 37(2): 402-410, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196047
4.
Neurocomputational mechanisms underlying subjective valuation of effort costs.
PLoS Biol
; 15(2): e1002598, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28234892
5.
Dopamine metabolism of the nucleus accumbens and fronto-striatal connectivity modulate impulse control.
Brain
; 142(3): 733-743, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30753324
6.
Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle.
Acta Derm Venereol
; 100(15): adv00241, 2020 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725253
7.
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
Exp Dermatol
; 26(6): 536-541, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27306922
8.
Visual short-term memory deficits in REM sleep behaviour disorder mirror those in Parkinson's disease.
Brain
; 139(Pt 1): 47-53, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582557
9.
S1 guidelines for the diagnosis and treatment of ichthyoses - update.
J Dtsch Dermatol Ges
; 15(10): 1053-1065, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28976107
10.
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Acta Derm Venereol
; 96(4): 468-72, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608363
11.
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Am J Hum Genet
; 91(5): 906-11, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063621
12.
Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Am J Hum Genet
; 91(4): 754-9, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23000146
13.
[Cutaneous polyarteritis nodosa]. / Kutane Panarteriitis nodosa.
Hautarzt
; 71(Suppl 1): 32-34, 2020 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-32974711
14.
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
Acta Derm Venereol
; 99(1): 111-112, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29956718
15.
Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome.
Acta Derm Venereol
; 99(3): 345-346, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460372
16.
Neonatal blue light phototherapy increases café-au-lait macules in preschool children.
Eur J Pediatr
; 173(11): 1519-25, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942237
17.
[Role of the dermatologist in recognizing syndromes]. / Rolle des Dermatologen bei der Syndromerkennung.
Hautarzt
; 70(7): 472-473, 2019 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-31243517
18.
Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.
J Dtsch Dermatol Ges
; 12(9): 781-8, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25176457
19.
Affection of Motor Network Regions by Tau Pathology Across the Alzheimer's Disease Spectrum.
eNeuro
; 11(1)2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38164539
20.
Cortical Tau Aggregation Patterns associated with Apraxia in Alzheimer's Disease.
medRxiv
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645131