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Perrone, Eduardo
205  results:
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1

ELMO2 biallelic pathogenic variants in a patient with gingi..:

Perrone, Eduardo ; Coelho, Antonio Victor Campos ; Virmond, Luiza do Amaral...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Low‐pass whole genome sequencing as a cost‐effective altern..:

Mazzonetto, Patricia C. ; Villela, Darine ; Krepischi, Ana C. V....
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

The hospital Israelita Albert Einstein standards for consti..:

Quaio, Caio Robledo D'Angioli Costa ; Ceroni, José Ricardo Magliocco ; Pereira, Michele Araújo...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

BRCA1 and BRCA2 germline mutation analysis from a cohort of..:

Mazzonetto, Patricia ; Milanezi, Fernanda ; D'Andrea, Mariana...
Breast Cancer Research and Treatment.  199 (2023)  1 - p. 127-136 , 2023
Link: https://doi.org/10.1007/..
 
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5

Genomic study of nonsyndromic hearing loss in unaffected in..:

Quaio, Caio Robledo D' Angioli Costa ; Coelho, Antonio Victor Campos ; Moura, Livia Maria Silva...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

A novel variant in the COX15 gene causing a fatal infantile..:

Galvão de Oliveira, Manuella ; Tengan, Célia ; Micheletti, Cecília...
European Journal of Medical Genetics.  64 (2021)  5 - p. 104195 , 2021
Link: https://doi.org/10.1016/..
 
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7

Congenital chromoanagenesis in the routine postnatal chromo..:

Villela, Darine ; Mazzonetto, Patricia C. ; Migliavacca, Michele P....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2335-2344 , 2021
Link: https://doi.org/10.1002/..
 
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8

Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imag..:

Perrone, Eduardo ; Burlin, Stênio ; D'Almeida, Vânia...
Neurology.  96 (2021)  11 - p. , 2021
Link: https://doi.org/10.1212/..
 
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9

Clinical and molecular evaluation of 13 Brazilian patients ..:

Perrone, Eduardo ; Perez, Ana Beatriz Alvarez ; D'Almeida, Vânia...
American Journal of Medical Genetics Part A.  185 (2020)  4 - p. 1047-1058 , 2020
Link: https://doi.org/10.1002/..
 
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10

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMEN..:

Zanolla, Thais Arbocese ; Perrone, Eduardo ; Fock, Rodrigo Ambrosio...
Revista Paulista de Pediatria.  38 (2020)  - p. , 2020
Link: https://doi.org/10.1590/..
 
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11

Leigh syndrome in a patient with a novel C12orf65 pathogeni..:

Perrone, Eduardo ; Cavole, Thiago R. ; Oliveira, Manuella G....
Genetics and Molecular Biology.  43 (2020)  2 - p. , 2020
Link: https://doi.org/10.1590/..
 
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12

Gomez–López–Hernández syndrome: A case report with clinical..:

Perrone, Eduardo ; D'Almeida, Vânia ; de Macena Sobreira, Nara Lygia...
American Journal of Medical Genetics Part A.  182 (2020)  7 - p. 1761-1766 , 2020
Link: https://doi.org/10.1002/..
 
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13

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sa..:

Cavole, Thiago Rodrigues ; Perrone, Eduardo ; de Faria Soares, Maria de Fatima...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 3029-3034 , 2020
Link: https://doi.org/10.1002/..
 
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14

Clinical, molecular, and pathological findings in a Neu–Lax..:

Cavole, Thiago R. ; Perrone, Eduardo ; Lucena de Castro, Felipe S. C....
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1473-1476 , 2020
Link: https://doi.org/10.1002/..
 
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15

Schmid metaphyseal chondrodysplasia: an example of radiolog..:

de França, Marina ; de Faria Soares, Maria de Fátima ; Luce, Ana Luiza Pilla.
Radiology Case Reports.  15 (2020)  12 - p. 2554-2556 , 2020
Link: https://doi.org/10.1016/..
 
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