about
Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.Meningocele in a congolese female with beckwith-wiedemann phenotype.Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa.Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.Congenital lateral abdominal wall defect in two Congolese childrenA comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR CongoUsefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR CongoVariability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityMorphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomaliesExploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese childrenPhenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Aimé Lumaka
@en
Aimé Lumaka
@nl
type
label
Aimé Lumaka
@en
Aimé Lumaka
@nl
prefLabel
Aimé Lumaka
@en
Aimé Lumaka
@nl
P31
P496
0000-0002-5468-8678