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Catarina Inês Gonçalves

University of Beira Interior

4

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High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism

2019 Scientific Reports
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Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.

2017 Human Reproduction
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Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform

2015 Fertility and Sterility
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Kallmann Syndrome: Diagnosis in Paediatric Age

2014
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