Found: 8
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2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04843-7
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- Publication type:
- Article
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2022, v. 15, p. 913, doi. 10.2147/PGPM.S380908
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- Publication type:
- Article
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2022, v. 15, p. 873, doi. 10.2147/PGPM.S380796
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- Publication type:
- Article
Perception of giant African snail ( Achatina fulica) in urban community from Colombia.
- Published in:
- Revista Facultad Nacional de Agronomía Medellín, 2019, v. 72, n. 1, p. 8717, doi. 10.15446/rfnam.v72n1.73085
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- Publication type:
- Article
Caracterización molecular de las variantes del virus de Epstein-Barr detectadas en la cavidad oral de adolescentes de Cali, Colombia.
- Published in:
- Biomédica: Revista del Instituto Nacional de Salud, 2020, v. 40, p. 76, doi. 10.7705/biomedica.4917
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- Publication type:
- Article
A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report.
- Published in:
- Orthopedic Research & Reviews, 2022, v. 14, p. 453, doi. 10.2147/ORR.S385146
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- Publication type:
- Article
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity.
- Published in:
- 2022
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- Publication type:
- Case Study
2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
- Published in:
- 2022
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- Publication type:
- journal article