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Showing page 1 of results 1 - 10 of about 19 pages

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Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel | ESPE2016
Marilena Nakaguma; Lima Jorge Alexanr Augusto de; Assis Funari Mariana Ferreira de; Antonio Marcondes Lerario; Azevedo Correa Fe
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc14.4.htm
Published: 2016-08-19

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Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences of Sex Development (DSD) | ESPE2019
Nathalia Lisboa Gomes; Rafael Loch Batista; Mirian Y Nishi; Antonio Marcondes; Tatiane E. Silva; Mariana Funari; Júnior José A
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-135
Published: 2019-08-22

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Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes | ESPE2019
Alexsandra C. Malaquias; Renata M Noronha; Thais K Homma; Edoarda V A Albuquerque; Debora R Bertola; Alexander A L Jorge
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC8.4
Published: 2019-08-22

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Combining Clinical and Genetic Approaches in Diagnosing a Large Brazilian Cohort of Patients with 46,XY Differences of Sex Development (DSD) | ESPE2019
Nathalia Lisboa Gomes; Rafael Loch Batista; Mirian Y Nishi; Antonio Marcondes; Tatiane E. Silva; Mariana Funari; Júnior José A
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-135.html
Published: 2019-08-22

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Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes | ESPE2019
Alexsandra C. Malaquias; Renata M Noronha; Thais K Homma; Edoarda V A Albuquerque; Debora R Bertola; Alexander A L Jorge
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc8.4.html
Published: 2019-08-22

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Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature | ESPE2018
Thais Homma; Bruna Freire; Rachel Ronjo; Andrew Dauber; Mariana Funari; Antonio Lerario; Ivo Arnhold; Ana Canton; Sofia Sugayama
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p177.htm
Published: 2018-08-28

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Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes | ESPE2018
Ana Canton; Vinicius Brito; Luciana Montenegro; Carolina Ramos; Delanie Macedo; Danielle Bessa; Marina Cunha; Alexander Jorge; B
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc9.1.htm
Published: 2018-08-28

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The Metabolic Profile Associated with RASopathies | ESPE2018
Renata Noronha; Thais Homma; Michelle Moraes; Edoarda Albuquerque; Mariana Funari; Alexandre Pereira; Sandra Villares; Debora Be
http://abstracts.eurospe.org/hrp/0089/hrp0089fc15.4.htm
Published: 2018-08-28

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Novel Variants in the POU1F1 Beta Isoform are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency | ESPE2018
Julia Hoppmann; Denise Rockstroh-Lippold; Peter Gergics; Marilena Nakaguma; Luciani Renata Silveira Carvalho; Heike Pfaeffle; Ra
http://abstracts.eurospe.org/hrp/0089/hrp0089fc9.1.htm
Published: 2018-08-28

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RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders | ESPE2016
Thais Homma; Mariana Funari; Antonio Lerario; Bruna Freire; Mirian Nishi; Guilherme Yamamoto; Michel Naslavsky; Mayana Zatz; Ivo
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc6.2.htm
Published: 2016-08-19

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