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Showing page 1 of results 1 - 9 of about 9 pages

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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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DEAH-Box Helicase 37defects (DXH37) Deffects are a Novel Cause of 46,XY Gonadal Dysgenesis | ESPE2018
Nathalia Gomes; Thatiana Silva; Antonio Lerario; Rafael Loch Batista; Jose Antonio Faria Junior; Daniela Moraes; Elaine Maria Fr
http://abstracts.eurospe.org/hrp/0089/hrp0089fc8.5.htm
Published: 2018-08-28

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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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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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Genome-Wide Promoter Methylation Analysis in Cytologically Indeterminate Thyroid Nodules | ESPE2014
Ericka B Trarbach; Amanda Shinzato; Chin J Lin; Suemi Marui; Antonio M Lerario
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-236.htm
Published: 2014-08-28

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Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans | ESPE2014
Amanda Shinzato; Antonio M Lerario; Debora S Danilovic; Suemi Marui; Chin J Lin; Ericka B Trarbach
http://abstracts.eurospe.org/hrp/0082/hrp0082fc13.3.htm
Published: 2014-08-28

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