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Showing page 1 of results 1 - 10 of about 11 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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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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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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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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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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Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure | ESPE2016
Monica Franca; Mariana Funari; Mirian Nishi; Sorahia Domenice; Ana Claudia Latronico; Alexander Jorge; Antonio Lerario; Berenice
http://abstracts.eurospe.org/hrp/0086/hrp0086fc7.6.htm
Published: 2016-08-19

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Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing | ESPE2015
Mariana F A Funari; Gabriela A Vasques; Antonio M Lerario; Bruna L Freire; Mirian Y Nishi; Monica M Franca; Sueli M O Shinjo; Su
http://abstracts.eurospe.org/hrp/0084/hrp0084lbp-1268.htm
Published: 2015-08-26

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POLR3H Variant is Associated with Primary Ovarian Failure in Two Families | ESPE2015
Monica Franca; Mariana Funari; Sorahia Domenice; Mirian Nishi; Elaine Costa; Leticia Gontijo; Ana Claudia Latronico; Alexander J
http://abstracts.eurospe.org/hrp/0084/hrp0084lbp-1261.htm
Published: 2015-08-26

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The Impact of GH Therapy in Noonan Syndrome Children with Identified Mutations in RAS/MAPK Pathway | ESPE2015
Alexsandra Malaquias; Michelle Moraes; Mariana Funari; Alexandre Pereira; Debora Bertola; Alexander Jorge
http://abstracts.eurospe.org/hrp/0084/hrp0084p3-944.htm
Published: 2015-08-26

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