Found: 25
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Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population‐specific measurements.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3063, doi. 10.1002/ajmg.a.62958
- By:
- Publication type:
- Article
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2825, doi. 10.1002/ajmg.a.62855
- By:
- Publication type:
- Article
Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 990, doi. 10.1002/ajmg.a.62049
- By:
- Publication type:
- Article
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.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 453, doi. 10.1002/ajmg.a.61987
- By:
- Publication type:
- Article
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1572, doi. 10.1002/ajmg.a.61617
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- Publication type:
- Article
Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 632, doi. 10.1002/ajmg.a.61477
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- Publication type:
- Article
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
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- Publication type:
- Article
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0123568
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- Publication type:
- Article
Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 3, p. 294, doi. 10.1002/ccr3.476
- By:
- Publication type:
- Article
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
- Published in:
- Clinical Case Reports, 2014, v. 2, n. 6, p. 250, doi. 10.1002/ccr3.101
- By:
- Publication type:
- Article
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
- Published in:
- Journal of Clinical Laboratory Analysis, 2022, v. 36, n. 5, p. 1, doi. 10.1002/jcla.24398
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- Publication type:
- Article
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α<sup>3.7</sup> triplication in congolese patients than in worldwide series.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Fragile X checklists: A meta‐analysis and development of a simplified universal clinical checklist.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 526, doi. 10.1002/mgg3.398
- By:
- Publication type:
- Article
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278478
- By:
- Publication type:
- Article
Sickle cell disease and pregnancy profile of complicated malaria in 982 pregnancies in Kinshasa.
- Published in:
- PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0275115
- By:
- Publication type:
- Article
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 449, doi. 10.1002/humu.23936
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- Publication type:
- Article
Sickle cell anemia and pregnancy: Profile of hemodynamic changes in sickle cell pregnant women in Kinshasa.
- Published in:
- EJHaem, 2023, v. 4, n. 4, p. 977, doi. 10.1002/jha2.789
- By:
- Publication type:
- Article
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.
- Published in:
- EJHaem, 2023, v. 4, n. 3, p. 595, doi. 10.1002/jha2.735
- By:
- Publication type:
- Article
Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa.
- Published in:
- International Medical Case Reports Journal, 2015, v. 8, p. 333, doi. 10.2147/IMCRJ.S86098
- By:
- Publication type:
- Article
Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case–control study in Congolese children.
- Published in:
- Malaria Journal, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12936-020-3100-8
- By:
- Publication type:
- Article