Found: 7
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Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature.
- Published in:
- Clinical Case Reports, 2022, v. 10, n. 2, p. 1, doi. 10.1002/ccr3.5401
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- Publication type:
- Article
A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature.
- Published in:
- 2018
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- Publication type:
- Case Study
HSD10 disease in a female: A case report and review of literature.
- Published in:
- 2021
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- Publication type:
- Case Study
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
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- Publication type:
- Article
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2791, doi. 10.1002/ajmg.a.40492
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- Publication type:
- Article
Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1423, doi. 10.1002/ajmg.a.38700
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- Publication type:
- Article
Foramen magnum compression in Coffin-Lowry syndrome: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1087, doi. 10.1002/ajmg.a.38095
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- Publication type:
- Article