Detalhe da pesquisa
1.
ROSAH syndrome mimicking chronic uveitis.
Clin Genet
; 103(4): 453-458, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543582
2.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457110
3.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203883
4.
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Int J Mol Sci
; 22(23)2021 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884448
5.
Immunoglobulin G (IgG) and IgG subclass reference intervals in children, using Optilite® reagents.
Clin Chem Lab Med
; 56(8): 1319-1327, 2018 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29630506
6.
ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss.
J Clin Immunol
; 41(7): 1671-1673, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159509
7.
Wagner syndrome: Novel VCAN variant and prophylactic management with encircling band and retinopexy.
Am J Ophthalmol Case Rep
; 34: 102061, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38680526
8.
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection.
Kidney Int Rep
; 9(5): 1451-1457, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38707821
9.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA Ophthalmol
; 142(5): 463-471, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602673
10.
The Reliable, Automatic Classification of Neonates in First-Tier MALDI-MS Screening for Sickle Cell Disease.
Int J Neonatal Screen
; 5(3): 31, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072990
11.
A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform.
Int J Neonatal Screen
; 5(1): 10, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072970
12.
[Reports from EuroMedLab by the interns]. / Retour du congrès EuroMedLab par les internes Barcelone, 19-23 mai 2019.
Ann Biol Clin (Paris)
; 77(4): 473-478, 2019 08 01.
Artigo
em Francês
| MEDLINE | ID: mdl-31418711
13.
[2009-2017 report on the attractiveness of laboratory medicine among young doctors. / Le diplôme d'études spécialisées de biologie médicale attire-t-il toujours autant les étudiants en médecine ? Bilan des huit dernières années.
Ann Biol Clin (Paris)
; 76(2): 125-130, 2018 04 01.
Artigo
em Francês
| MEDLINE | ID: mdl-29623878