Detalhe da pesquisa
1.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Am J Hum Genet
; 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38843839
2.
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.
Am J Med Genet A
; 188(10): 3063-3070, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986581
3.
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Am J Med Genet A
; 188(9): 2825-2831, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670385
4.
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
J Clin Lab Anal
; 36(5): e24398, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405024
5.
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Am J Med Genet A
; 185(3): 990-994, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372375
6.
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).
Am J Med Genet A
; 182(7): 1572-1575, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32406590
7.
Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children.
Malar J
; 19(1): 25, 2020 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941497
8.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
9.
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Am J Med Genet A
; 176(9): 1897-1909, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30088852
10.
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
J Clin Lab Anal
; 32(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332727
11.
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.
J Clin Lab Anal
; 32(1)2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28276593
12.
Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.
Hematology
; 28(1): 2193770, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014748
13.
Sickle cell anemia and pregnancy: Profile of hemodynamic changes in sickle cell pregnant women in Kinshasa.
EJHaem
; 4(4): 977-983, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38024611
14.
Sickle cell disease and pregnancy profile of complicated malaria in 982 pregnancies in Kinshasa.
PLoS One
; 17(10): e0275115, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201515
15.
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.
PLoS One
; 17(12): e0278478, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36525434
16.
Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.
Clin Dysmorphol
; 29(1): 24-27, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30946036
17.
Homozygous Deletion Alpha-Thalassemia and Hereditary Persistence of Fetal Hemoglobin, Two Genetic Factors Predictive the Reduction of Morbidity and Mortality During Pregnancy in Sickle Cell Patients. A Report from the Democratic Republic of Congo.
Mediterr J Hematol Infect Dis
; 11(1): e2019039, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31308915
18.
Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.
J Community Genet
; 10(1): 153-159, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974402
19.
Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.
J Craniomaxillofac Surg
; 46(7): 1051-1058, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29802056
20.
Proceedings of the 13th International Newborn Brain Conference: Fetal and/or neonatal brain development, both normal and abnormal.
J Neonatal Perinatal Med
; 15(2): 411-426, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35431185