Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
3.
Factor VIII and IX assays for post-infusion monitoring in hemophilia patients: Guidelines from the French BIMHO group (GFHT).
Eur J Haematol
; 105(2): 103-115, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277501
4.
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Childs Nerv Syst
; 36(5): 961-965, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103336
5.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
6.
Bundles of Auer rods in mature neutrophils in an acute myeloid leukaemia patient with inv(16)(p13.1q22) CBFB-MYH 11.
Br J Haematol
; 200(4): 398, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36441114
7.
Comparison of Point-of-Care and Classical Immunoassays for the Monitoring Infliximab and Antibodies Against Infliximab in IBD.
Dig Dis Sci
; 63(10): 2714-2721, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948562
8.
Intracellular yeasts in a peripheral blood film leads to a diagnosis of Candida parapsilosis fungaemia.
Br J Haematol
; 191(3): 318, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743807
9.
Haemophagocytosis in bone marrow aspirates in patients with COVID-19.
Br J Haematol
; 190(2): e70-e73, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32529634
10.
Expanding the clinical spectrum of Coffin-Siris syndrome with Anorectal Malformations: case report and review of the literature.
Eur J Med Genet
; : 104948, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735569
11.
Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.
Life (Basel)
; 14(1)2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255745
12.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293186
13.
Acquired Thrombotic Thrombocytopenic Purpura After BNT162b2 COVID-19 Vaccine: Case Report and Literature Review.
Lab Med
; 53(6): e145-e148, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482291
14.
Antiphospholipid antibodies in patients with coronavirus disease 2019 infection hospitalized in conventional unit.
Blood Coagul Fibrinolysis
; 32(2): 73-79, 2021 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33273262
15.
Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.
BMC Res Notes
; 14(1): 110, 2021 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33757564
16.
Multiple Arterial Thrombosis in a 78-Year-Old Patient: Catastrophic Thrombotic Syndrome in COVID-19.
CJC Open
; 3(2): 198-200, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33024951
17.
Macrophage Activation in COVID-19 Patients in Intensive Care Unit.
J Med Cases
; 11(7): 211-214, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33984075
18.
[Factor IX assays in treated hemophilia B patients]. / Dosage de l'activité du facteur IX chez les patients hémophiles B substitués.
Ann Biol Clin (Paris)
; 77(1): 41-52, 2019 02 01.
Artigo
em Francês
| MEDLINE | ID: mdl-30799297
19.
[Factor VIII assays in treated hemophilia A patients]. / Dosage de l'activité du facteur VIII chez les patients hémophiles A substitués.
Ann Biol Clin (Paris)
; 77(1): 53-65, 2019 02 01.
Artigo
em Francês
| MEDLINE | ID: mdl-30799298
20.
Heparin monitoring during extracorporeal membrane oxygenation: the effect of dextran sulfate on anti-Xa assay.
Res Pract Thromb Haemost
; 7(7): 102196, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-38077812