Detalhe da pesquisa
1.
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
J Eur Acad Dermatol Venereol
; 37(4): 817-822, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331357
2.
Seroprevalence of SARS-CoV-2 antibodies, associated factors, experiences and attitudes of nursing home and home healthcare employees in Switzerland.
BMC Infect Dis
; 22(1): 259, 2022 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296242
3.
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.
Acta Derm Venereol
; 101(2): adv00397, 2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33491095
4.
Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.
BMC Health Serv Res
; 16: 41, 2016 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26847197
5.
Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.
J Invest Dermatol
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642798
6.
Effects of Pycnogenol® in people with post-COVID-19 condition (PYCNOVID): study protocol for a single-center, placebo controlled, quadruple-blind, randomized trial.
Trials
; 25(1): 385, 2024 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38879571
7.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980989
8.
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.
Genes (Basel)
; 12(8)2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440338
9.
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Front Genet
; 12: 719624, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34956305
10.
Genotype-phenotype correlation in von Hippel-Lindau disease.
Acta Ophthalmol
; 99(8): e1492-e1500, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33720516
11.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Genes (Basel)
; 12(1)2021 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33435499
12.
Stereoselective Total Synthesis of the Dimeric Naphthoquinonopyrano-γ-lactone (-)-Crisamicin A: Introducing the Dimerization Site by a Late-Stage Hartwig Borylation.
Org Lett
; 22(9): 3607-3612, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298125
13.
Neonatal presentation of COG6-CDG with prominent skin phenotype.
JIMD Rep
; 55(1): 51-58, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905044
14.
Drying-Rewetting and Flooding Impact Denitrifier Activity Rather than Community Structure in a Moderately Acidic Fen.
Front Microbiol
; 7: 727, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27313566
15.
[Studies of Coxiella burnetii infections in dairy herds with special regard to infections in men]. / Coxiella burnetii-Infektionen in Milchviehbetrieben unter besonderer Berücksichtigung von Infektionen bei Menschen.
Berl Munch Tierarztl Wochenschr
; 115(9-10): 360-5, 2002.
Artigo
em Alemão
| MEDLINE | ID: mdl-12357673