Found: 8
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 746, doi. 10.1002/pd.6382
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- Publication type:
- Article
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 261, doi. 10.1111/cge.13801
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- Publication type:
- Article
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
- Published in:
- Endocrine (1355008X), 2021, v. 73, n. 3, p. 693, doi. 10.1007/s12020-021-02756-4
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- Publication type:
- Article
Clinical Genetics of Prolidase Deficiency: An Updated Review.
- Published in:
- Biology (2079-7737), 2020, v. 9, n. 5, p. 108, doi. 10.3390/biology9050108
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- Publication type:
- Article
Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
- Published in:
- Neuroendocrinology, 2021, v. 111, n. 1/2, p. 99, doi. 10.1159/000506640
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- Publication type:
- Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
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- Publication type:
- Article
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 937, doi. 10.1002/ajmg.a.62050
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- Publication type:
- Article
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
- Published in:
- 2019
- By:
- Publication type:
- journal article