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1 . Academic Journal
Genomic imbalances in syndromic congenital heart disease
저자
by
Molck, Miriam Coelho
;
Simioni, Milena
;
Vieira, Társis Paiva
;
Sgardioli, Ilária Cristina
;
Monteiro, Fabíola Paoli
, et al.
소스
Jornal de Pediatria
. October 2017 93(5)
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7 . Academic Journal
Estudo clínico e epidemiológico de fissuras orofaciais
저자
by
Souza, Josiane
;
Raskin, Salmo
.
소스
Jornal de Pediatria
. April 2013 89(2)
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4 . Academic Journal
Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome
저자
by
Souza, Josiane
;
Faucz, Fábio
;
Sotomaior, Vanessa
;
Bonalumi Filho, Aguinaldo
;
Rosenfeld, Jill
, et al.
소스
Genetics and Molecular Biology
. January 2011 34(4)
Open Access (SciELO)
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7 . Academic Journal
Comparative study for the identification of myocardial ischemia by contrast ventriculography under the effect of isosorbide mononitrate and by perfusional myocardial scintigraphy in patients with ischemic heart disease
저자
by
Manfroi, Waldomiro Carlos
;
Ludwig, Roberto
;
Kirschnick, Luciana Schmidt
;
Souza, Josiane
;
Ribeiro, Letícia Weiss
, et al.
소스
Arquivos Brasileiros de Cardiologia
. February 1999 72(2)
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7 . Academic Journal
Genomic imbalances in syndromic congenital heart disease
저자
by
Coelho Molck, Miriam
;
Simioni, Milena
;
Vieira, Társis Paiva
;
Sgardioli, Ilária Cristina
;
Monteiro, Fabíola Paoli
, et al.
소스
In
Jornal de Pediatria (Versao en Portugues)
September-October 2017 93(5):497-507
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7 . Academic Journal
Clinical and epidemiological study of orofacial clefts
저자
by
Souza, Josiane
;
Raskin, Salmo
.
소스
In
Jornal de Pediatria (Versao en Portugues)
March-April 2013 89(2):137-144
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4 . Periodical
Predictive factors of genetic diagnosis and real‐life impact of next‐generation sequencing for children with epilepsy
저자
by
Pinto, Gustavo Moura da Mata Machado Ferreira
;
Fidalski, Solena Ziemer Kusma
;
Santos, Mara Lúcia Schmidt Ferreira
;
Souza, Josiane
;
Valle, Daniel Almeida
.
소스
Epileptic Disorders; October 2023, Vol. 25 Issue: 5 p724-730, 7p
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7 . Academic Journal
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
저자
by
Dulski, Jarosław
;
Souza, Josiane
;
Santos, Mara Lúcia
;
Wszolek, Zbigniew K.
.
소스
Orphanet Journal of Rare Diseases
. 6/22/2023, Vol. 18 Issue 1, p1-17. 17p.
Open Access (BioMed Central)
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6 . Academic Journal
BRPF1‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.
저자
by
Souza, Josiane
;
do Valle, Daniel Almeida
;
Santos, Mara Lucia Schmidt Ferreira
;
Colomé, Fernanda Bonilla
;
Teive, Helio Afonso Ghizoni
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1875-1880, 6p
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7 . Academic Journal
Atypical copy number abnormalities in 22q11.2 region: Report of three cases
저자
by
Molck, Miriam Coelho
;
Vieira, Társis Paiva
;
Sgardioli, Ilária Cristina
;
Simioni, Milena
;
dos Santos, Ana Paula
, et al.
소스
In
European Journal of Medical Genetics
September 2013 56(9):515-520
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