Хайлтын үр дүнгүүд - Beatriz R. Versiani
- 9-н 1 - 9 үр дүнгүүдийг харуулж байна
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Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome -н Luciana Ribeiro Montenegro, Letícia Ferreira Gontijo Silveira, Cíntia Tusset, Margaret de Castro, Beatriz R. Versiani, Ana Cláudia Latronico, Berenice B. Mendonça, Ericka Barbosa Trarbach
Хэвлэсэн 2013Artigo -
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Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia -н Ericka Barbosa Trarbach, Elaine Maria Frade Costa, Beatriz R. Versiani, Margaret de Castro, Maria Tereza Matias Baptista, Heraldo Mendes Garmes, Berenice B. Mendonça, Ana Cláudia Latronico
Хэвлэсэн 2006Artigo -
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Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions -н Marcela D. Hanna, Patricia Moretti, Claudiner Pereira de Oliveira, Maria Teresa Alves Silva Rosa, Beatriz R. Versiani, Silviene Fabiana de Oliveira, Aline Pic‐Taylor, Juliana F. Mazzeu
Хэвлэсэн 2019Artigo -
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Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome -н Ana Paula Abreu, Ericka Barbosa Trarbach, Margaret de Castro, Elaine Maria Frade Costa, Beatriz R. Versiani, Maria Tereza Matias Baptista, Heraldo Mendes Garmes, Berenice B. Mendonça, Ana Cláudia Latronico
Хэвлэсэн 2008Artigo -
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Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations -н Ana Carolina Vaqueiro, Claudiner Pereira de Oliveira, Mara S. Córdoba, Beatriz R. Versiani, Camila Xavier de Carvalho, Pedro Guilherme Alves Rodrigues, Silviene Fabiana de Oliveira, Juliana F. Mazzeu, Aline Pic‐Taylor
Хэвлэсэн 2017Artigo -
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Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review -н Vanessa Sodré de Souza, Gabriela Corassa Rodrigues da Cunha, Beatriz R. Versiani, Claudiner Pereira de Oliveira, Maria Teresa Alves Silva Rosa, Silviene Fabiana de Oliveira, Patricia Moretti, Juliana F. Mazzeu, Aline Pic‐Taylor
Хэвлэсэн 2022Artigo -
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Partial 1q Duplications and Associated Phenotype -н Marcos L.M. Morris, José Eduardo Baroneza, Patrícia Varela, Cristina Touguinha Neves Medina, Mara S. Córdoba, Beatriz R. Versiani, Liege L. Roese, Érika L. Freitas, Ana Carolina Fonseca, Maria Cristina Leme Godoy dos Santos, Aline Pic‐Taylor, Carla Rosenberg, Silviene Fabiana de Oliveira, Íris Ferrari, Juliana F. Mazzeu
Хэвлэсэн 2015Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Medicine
Coronavirus disease 2019 (COVID-19)
Disease
Infectious disease (medical specialty)
Internal medicine
Kallmann syndrome
Phenotype
Anosmia
Chromosome
Endocrinology
Gene expression
Hormone
Hypogonadotropic hypogonadism
Intellectual disability
Microarray analysis techniques
Mutation
Psychology
Transcription factor
Anatomy
Aniridia
Botany
Chromosomal Deletion
Chromosomal translocation
Computational biology
Corpus callosum
Disability studies
Environmental health