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1 . Academic Journal
Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes
저자
by
Kanazawa, Thatiane Yoshie
;
Bonadia, Luciana Cardoso
;
Cavalcanti, Denise Pontes
.
소스
Genetics and Molecular Biology
. December 2014 37(4)
Open Access (SciELO)
Web of Science
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5 . Academic Journal
Molecular analysis of holoprosencephaly in South America
저자
by
Savastano, Clarice Pagani
;
El-Jaick, Kênia Balbi
;
Costa-Lima, Marcelo Aguiar
;
Abath, Cristina Maria Batista
;
Bianca, Sebastiano
, et al.
소스
Genetics and Molecular Biology
. January 2014 37(1)
Open Access (SciELO)
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7 . Academic Journal
Christine Hackel (1955-2013)
저자
by
Steiner, Carlos Eduardo
;
Cavalcanti, Denise Pontes
.
소스
Genetics and Molecular Biology
. January 2014 37(1)
Open Access (SciELO)
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4 . Academic Journal
Importância da avaliação genético-clínica na hidrocefalia
저자
by
Wey-Vieira, Marta
;
Cavalcanti, Denise Pontes
;
Lopes, Vera Lúcia Gil Silva
.
소스
Arquivos de Neuro-Psiquiatria
. June 2004 62(2b)
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5 . Academic Journal
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
저자
by
Gomes, Maria Eduarda
;
Kehdy, Fernanda
;
de Neves-Manta, Fernanda Saloum
;
Horovitz, Dafne Dain Gandelman
;
Sanseverino, Maria Teresa
, et al.
소스
Scientific Reports
. 6/11/2024, Vol. 14 Issue 1, p1-7. 7p.
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7 . Academic Journal
A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences.
저자
by
Lacarrubba‐Flores, Maria Dora Jazmin
;
da Costa Silveira, Karina
;
Silveira, Cynthia
;
Carvalho, Benilton S.
;
Cavalcanti, Denise Pontes
.
소스
American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p328-336, 9p
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7 . Academic Journal
Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation
저자
by
Bernardini, Laura
;
Capalbo, Anna
;
D'Avanzo, Maria Gabriella
;
Torrente, Isabella
;
Grammatico, Paola
, et al.
소스
In
European Journal of Medical Genetics
2007 50(2):94-102
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7 . Academic Journal
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
저자
by
Llerena Jr, Juan
;
Kim, Chong Ae
;
Fano, Virginia
;
Rosselli, Pablo
;
Collett-Solberg, Paulo Ferrez
, et al.
소스
BMC Pediatrics; 8/19/2022, Vol. 22 Issue 1, p1-13, 13p
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7 . Academic Journal
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
저자
by
de Castro, Viviane Freitas
;
Mattos, Daniel
;
de Carvalho, Flavia Martinez
;
Cavalcanti, Denise Pontes
;
Duenas-Roque, Milagros M.
, et al.
소스
Molecular Syndromology; 2021, Vol. 12 Issue 4, p219-233, 15p
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7 . Periodical
New SHHand Known SIX3Variants in a Series of Latin American Patients with Holoprosencephaly
저자
by
de Castro, Viviane Freitas
;
Mattos, Daniel
;
de Carvalho, Flavia Martinez
;
Cavalcanti, Denise Pontes
;
Duenas-Roque, Milagros M.
, et al.
소스
Molecular Syndromology; 20210101, Issue: Preprints p1-15, 15p
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