Mariana F.A. Funari

机构：Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · ORCID：0000-0003-4316-4999

发表论文 61 篇 · 总被引 1426 次 · h-index 21

代表论文

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature (2019 · The Journal of Clinical Endocrinology & Metabolism · 被引 90)
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency (2020 · PLoS ONE · 被引 65)
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency (2019 · The Journal of Clinical Endocrinology & Metabolism · 被引 50)
Impact of Growth Hormone Therapy on Adult Height in Patients with <b><i>PTPN11</i></b> Mutations Related to Noonan Syndrome (2019 · Hormone Research in Paediatrics · 被引 25)
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR (2019 · Endocrine Connections · 被引 16)
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature (2019 · Hormone Research in Paediatrics · 被引 16)