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Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.
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- Molecular Syndromology, 2022, v. 13, n. 4, p. 290, doi. 10.1159/000518872
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- Article
Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.
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- Molecular Syndromology, 2019, v. 10, n. 4, p. 202, doi. 10.1159/000501008
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- Article
Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test.
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- Neuroendocrinology, 2011, v. 94, n. 3, p. 209, doi. 10.1159/000328437
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- Article
Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1861, doi. 10.1002/ajmg.a.61620
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- Article
Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.
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- Clinical Endocrinology, 2007, v. 66, n. 2, p. 173, doi. 10.1111/j.1365-2265.2006.02702.x
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- Article
Partial 1q Duplications and Associated Phenotype.
- Published in:
- Molecular Syndromology, 2016, v. 6, n. 6, p. 297, doi. 10.1159/000443599
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- Article