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
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
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
Inglês
| MEDLINE | ID: mdl-35670385
4.
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
Inglês
| MEDLINE | ID: mdl-33372375
5.
Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo.
Am J Med Genet A
; 185(2): 453-460, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33247552
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
Inglês
| MEDLINE | ID: mdl-32406590
7.
Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies.
Am J Med Genet A
; 182(4): 632-639, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31912658
8.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Front Public Health
; 11: 1248260, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37822540
9.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Front Public Health
; 11: 1079601, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36935719