Found: 28
Select item for more details and to access through your institution.
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
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4003, doi. 10.3390/ijms24044003
- By:
- Publication type:
- Article
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2253, doi. 10.3390/ijms23042253
- By:
- Publication type:
- Article
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 126, doi. 10.1111/cge.13769
- 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
PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps.
- Published in:
- Global Medical Genetics, 2023, v. 10, n. 1, p. 1, doi. 10.1055/s-0042-1759888
- 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
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
- By:
- 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
X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 2, p. 267, doi. 10.1007/s00431-011-1523-5
- 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
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
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1381, doi. 10.1002/ajmg.a.35353
- By:
- Publication type:
- Article
Screening of germline mutations in young Rwandan patients with breast cancers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1500
- By:
- Publication type:
- 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
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02391-w
- By:
- Publication type:
- Article