E-LIB Suche - Ergebnisse für: Bragagnolo, Silvia

1

Novel MYT1 variants expose the complexity of oculo‐auriculo..:

Zamariolli, Malú ; Burssed, Bruna ; Moysés‐Oliveira, Mariana...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2056-2064 , 2021

Link: https://doi.org/10.1002/..

2

Breakpoint mapping at nucleotide resolution in X-autosome b..:

Moysés-Oliveira, Mariana ; Di-Battista, Adriana ; Zamariolli, Malú...
European Journal of Human Genetics. 27 (2019) 5 - p. 760-771 , 2019

Link: https://doi.org/10.1038/..

3

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral..:

Zamariolli, Malú ; Colovati, Mileny ; Moysés‐Oliveira, Mariana...
Molecular Genetics & Genomic Medicine. 7 (2019) 10 - p. , 2019

Link: https://doi.org/10.1002/..

4

Clinical and cytogenomic findings in OAV spectrum:

Bragagnolo, Silvia ; Colovati, Mileny E. S. ; Souza, Malu Z....
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 638-648 , 2018

Link: https://doi.org/10.1002/..

5

A novel de novo mutation in MYT1, the unique OAVS gene iden..:

Berenguer, Marie ; Tingaud-Sequeira, Angele ; Colovati, Mileny...
European Journal of Human Genetics. 25 (2017) 9 - p. 1083-1086 , 2017

Link: https://doi.org/10.1038/..

6

X‐linked intellectual disability related genes disrupted by..:

Moysés‐Oliveira, Mariana ; Guilherme, Roberta Santos ; Meloni, Vera Ayres...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 168 (2015) 8 - p. 669-677 , 2015

Link: https://doi.org/10.1002/..

7

Relationship between polymorphisms in genes involved in hom..:

da Silva, Luciana Rodrigues Jacy ; Vergani, Naja ; Galdieri, Luciano de Camargo...
American Journal of Medical Genetics Part A. 135A (2005) 3 - p. 263-267 , 2005

Link: https://doi.org/10.1002/..

8

Breakpoint mapping at nucleotide resolution in X-autosome b..:

Moysés-Oliveira, Mariana ; Di-Battista, Adriana ; Zamariolli, Malú...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461923/. , 2019

Link: http://www.ncbi.nlm.nih...

9

Deletion of Chromosome 13 due to Different Rearrangements a..:

Bellucco, Fernanda T ; Rodrigues de Oliveira-Júnior, Hélio ; Santos Guilherme, Roberta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528091/. , 2019

Link: http://www.ncbi.nlm.nih...

10

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral..:

Zamariolli, Malú ; Colovati, Mileny ; Moysés‐Oliveira, Mariana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785430/. , 2019

Link: http://www.ncbi.nlm.nih...

11

Estudo clínico e molecular de pacientes com espectro óculo ..:

Bragagnolo, Silvia UNIFESP
https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=5051880. , 2017

Link: http://repositorio.unife..

12

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral..:

Malú Zamariolli ; Mileny Colovati ; Mariana Moysés‐Oliveira...
https://doi.org/10.1002/mgg3.959. , 2019

Link: https://doi.org/10.1002/..

13

Perda auditiva hereditária: relato de casos Hereditary hear..:

Aline Mizozoe de Amorim ; Carolina Alves Ferreira de Carvalho ; Marisa Frasson de Azevedo.
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-18462008000100016. , 2008

Link: https://doi.org/10.1590/..

14

Genetic hearing loss: a study of 228 Brazilian patients:

Silvia Bragagnolo Longhitano ; Décio Brunoni
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100004. , 2000

Link: https://doi.org/10.1590/..

15

Inulin and probiotic concentration effects on fatty and lin..:

de Lima Alves, Larissa ; dos Santos Richards, Neila Silvia Pereira ; Mariutti, Lilian Regina Barros..
European Food Research and Technology. 233 (2011) 4 - p. 667-675 , 2011

Link: https://doi.org/10.1007/..