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Santos-Rebouças, Cíntia B.
95  Ergebnisse:
Personensuche X
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1

Skewed X-chromosome Inactivation in Women with Idiopathic I..:

Chaves, Luiza D. ; Carvalho, Laura M. L. ; Tolezano, Giovanna C....
Molecular Neurobiology.  60 (2023)  7 - p. 3758-3769 , 2023
Link: https://doi.org/10.1007/..
 
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2

A novel Xp11.22 duplication involving HUWE1 in a male with ..:

Santos-Rebouças, Cíntia B. ; Boy, Raquel ; Fernandes, Gabriela N.S....
European Journal of Medical Genetics.  66 (2023)  4 - p. 104716 , 2023
Link: https://doi.org/10.1016/..
 
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3

Distinct Epileptogenic Mechanisms Associated with Seizures ..:

Corrêa, Thiago ; Mayndra, Maytza ; Santos-Rebouças, Cíntia B.
Molecular Neurobiology.  59 (2022)  5 - p. 3159-3169 , 2022
Link: https://doi.org/10.1007/..
 
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4

New insights into candidate genes for autism spectrum disor..:

Maytza M. Corrêa ; Corrêa, Thiago ; Santos-Rebouças, Cíntia B....
Brazilian Journal of Case Reports.  3 (2022)  1 - p. 16-23 , 2022
Link: https://doi.org/10.52600..
 
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5

Convergent molecular mechanisms underlying cognitive impair..:

Corrêa, Thiago ; Poswar, Fabiano ; Santos-Rebouças, Cíntia B.
Metabolic Brain Disease.  37 (2021)  6 - p. 2089-2102 , 2021
Link: https://doi.org/10.1007/..
 
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6

Shared Neurodevelopmental Perturbations Can Lead to Intelle..:

Corrêa, Thiago ; Santos-Rebouças, Cíntia B. ; Mayndra, Maytza..
Genes.  12 (2021)  5 - p. 632 , 2021
Link: https://doi.org/10.3390/..
 
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7

XRCC4 rs28360071 intronic variant is associated with increa..:

Louzada-Neto, Orlando ; Lopes, Bruno A. ; Brisson, Gisele D....
Genetics and Molecular Biology.  43 (2020)  4 - p. , 2020
Link: https://doi.org/10.1590/..
 
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8

Skewed X-Chromosome Inactivation and Compensatory Upregulat..:

Santos-Rebouças, Cíntia B. ; Boy, Raquel ; Vianna, Evelyn Q....
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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9

CHCHD2 mutational screening in Brazilian patients with fami..:

Voigt, Danielle D. ; Nascimento, Caroline M. ; de Souza, Ritiele B....
Neurobiology of Aging.  74 (2019)  - p. 236.e7-236.e8 , 2019
Link: https://doi.org/10.1016/..
 
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10

Clinical profiles associated with LRRK2 and GBA mutations i..:

da Silva, Camilla P. ; de M. Abreu, Gabriella ; Cabello Acero, Pedro H....
Journal of the Neurological Sciences.  381 (2017)  - p. 160-164 , 2017
Link: https://doi.org/10.1016/..
 
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11

Autosomal dominant Parkinson's disease: Incidence of mutati..:

Abreu, Gabriella de M. ; Valença, Débora Cristina T. ; Campos Júnior, Mário...
Neuroscience Letters.  635 (2016)  - p. 67-70 , 2016
Link: https://doi.org/10.1016/..
 
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12

Parkinson disease: α-synuclein mutational screening and new..:

Pimentel, Márcia M.G. ; Rodrigues, Fabíola C. ; Leite, Marco Antônio A....
Parkinsonism & Related Disorders.  21 (2015)  6 - p. 586-589 , 2015
Link: https://doi.org/10.1016/..
 
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13

A novel nonsense mutation in KDM5C/JARID1C gene causing int..:

Santos-Rebouças, Cíntia B. ; Fintelman-Rodrigues, Natalia ; Jensen, Lars R....
Neuroscience Letters.  498 (2011)  1 - p. 67-71 , 2011
Link: https://doi.org/10.1016/..
 
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14

Shared Neurodevelopmental Perturbations Can Lead to Intelle..:

Corrêa, Thiago ; Santos-Rebouças, Cíntia B ; Mayndra, Maytza..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146713/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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15

XRCC4 rs28360071 intronic variant is associated with increa..:

Louzada-Neto, Orlando ; Lopes, Bruno A ; Brisson, Gisele D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7734917/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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