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1 . Academic Journal
Evaluation of the trabecular bone score in 35 children and adults with X-linked hypophosphatemic rickets.
저자
by
de Paula Colares Neto, Guido
;
Pereira, Rosa Maria Rodrigues
;
Alvarenga, Jackeline Couto
;
Takayama, Liliam
;
de Assis Funari, Mariana Ferreira
, et al.
소스
Journal of Bone & Mineral Metabolism
. Sep2023, Vol. 41 Issue 5, p666-672. 7p.
Web of Science
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7 . Academic Journal
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
저자
by
Freire, Bruna Lucheze
;
Homma, Thais Kataoka
;
Lerario, Antônio Marcondes
;
Seo, Go Hun
;
Han, Heonjong
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2599-2604, 6p
Web of Science
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7 . Academic Journal
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
저자
by
Lisboa Gomes, Nathalia
;
Loch Batista, Rafael
;
Nishi, Mirian Y.
;
Marcondes Lerário, Antônio
;
Silva, Thatiana E.
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; May2022, Vol. 107 Issue 5, pe1797-e1806, 10p
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7 . Periodical
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
저자
by
Gomes, Nathalia Lisboa
;
Batista, Rafael Loch
;
Nishi, Mirian Y
;
Lerário, Antônio Marcondes
;
Silva, Thatiana E
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism; May 2022, Vol. 107 Issue: 5 pe1797-e1806, 10p
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7 . Academic Journal
Genetic investigation of patients with tall stature.
저자
by
de Albuquerque Albuquerque, Edoarda Vasco
;
de Assis Funari, Mariana Ferreira
;
de Souza Quedas, Elisângela Pereira
;
Kawahira, Rachel Sayuri Honjo
;
Jallad, Raquel Soares
, et al.
소스
European Journal of Endocrinology
. Feb2020, Vol. 182 Issue 2, p139-147. 9p.
Full Text (OUP)
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7 . Academic Journal
High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53
저자
by
Brondani, Vania Balderrama
;
Montenegro, Luciana
;
Ferreira Lacombe, Amanda Meneses
;
Magalhaes, Breno Marchiori
;
Nishi, Mirian Yumie
, et al.
소스
CANCERS
; MAR 2020, 12 3, p621 12p.
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7 . Academic Journal
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in Sao Paulo
저자
by
Lerario, Antonio Marcondes
;
Mohan, Dipika R.
;
Montenegro, Luciana Ribeiro
;
de Assis Funari, Mariana Ferreira
;
Nishi, Mirian Yumie
, et al.
소스
CLINICS
; 2020, 75 pe1913 9p.
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Full Text (ScienceDirect O/A)
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7 . Academic Journal
Evidence for a Founder Effect of C.424_427del STAT5B Mutation Causing Growth Hormone Insensitivity in the South of Brazil
저자
by
Scalco, Renata Da Cunha
;
de Assis Funari, Mariana Ferreira
;
Aracava, Rosana Midori
;
Tonelli, Carlos Andre
;
Lima Jorge, Alexander Augusto
.
소스
ENDOCRINE REVIEWS
; JUN 2014, 35 3, 2p. Supplement: S
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Full Text (OUP Near Archive)
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7 . Academic Journal
Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
저자
by
Nakaguma, Marilena
;
de Lima Jorge, Alexander Augusto
;
de Assis Funari, Mariana Ferreira
;
Lerario, Antonio Marcondes
;
Correaa, Fernanda de Azevedo
, et al.
소스
HORMONE RESEARCH IN PAEDIATRICS
; 2016, 86 p116-p116, 1p. Supplement: 1
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