E-LIB Suche - Ergebnisse für: Mitne-Neto, Miguel

1

Evaluation of pathogenic variants detected in high homology..:

Paixão, Daniele ; Lima, Thalitta Hetamaro Ayala ; de Souza, Rafaela Rogério Floriano...
Frontiers in Oncology. 14 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

P434: Evaluation of monoallelic MUTYH variants in Brazilian..:

Bueno, Larissa ; Paixão, Daniele ; Lima, Thalitta...
Genetics in Medicine Open. 1 (2023) 1 - p. 100481 , 2023

Link: https://doi.org/10.1016/..

3

P075: Evaluation of PMS2 gene variant c.2182_2184delinsG by..:

Paixão, Daniele ; Lima, Thalitta Hetamaro Ayala ; Bueno, Larissa Souza Mario...
Genetics in Medicine Open. 1 (2023) 1 - p. 100094 , 2023

Link: https://doi.org/10.1016/..

4

P501: Pathogenic variants detected in high homology segment..:

Lima, Thalitta ; Paixão, Daniele ; Bueno, Larissa...
Genetics in Medicine Open. 1 (2023) 1 - p. 100548 , 2023

Link: https://doi.org/10.1016/..

5

Small-fibre Neuropathy in Patients with Familial Amyotrophi..:

Machado-Costa, Marcela Câmara ; Mitne-Neto, Miguel ; Costa, Luiza Helena Degani...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 50 (2022) 6 - p. 885-890 , 2022

Link: https://doi.org/10.1017/..

6

Genetic risk factors and COVID-19 severity in Brazil: resul..:

Pereira, Alexandre C ; Bes, Taniela M ; Velho, Mariliza...
Human Molecular Genetics. 31 (2022) 18 - p. 3021-3031 , 2022

Link: https://doi.org/10.1093/..

7

MHC Variants Associated With Symptomatic Versus Asymptomati..:

Castelli, Erick C. ; de Castro, Mateus V. ; Naslavsky, Michel S....
Frontiers in Immunology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

Diagnostic power and clinical impact of exome sequencing in..:

Quaio, Caio Robledo ; Moreira, Caroline Monaco ; Novo Filho, Gil Monteiro...
Molecular Genetics and Metabolism. 132 (2021) - p. S73 , 2021

Link: https://doi.org/10.1016/..

9

Exome sequencing and targeted gene panels: a simulated comp..:

Quaio, Caio Robledo D'Angioli Costa ; Obando, María José Rivadeneira ; Perazzio, Sandro Felix...
Genetics and Molecular Biology. 44 (2021) 4 - p. , 2021

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

10

A Novel Saliva RT-LAMP Workflow for Rapid Identification of..:

Kobayashi, Gerson Shigeru ; Brito, Luciano Abreu ; Moreira, Danielle de Paula...
Diagnostics. 11 (2021) 8 - p. 1400 , 2021

Link: https://doi.org/10.3390/..

11

Different gene expression profiles in iPSC-derived motor ne..:

Oliveira, Danyllo ; Morales-Vicente, David A ; Amaral, Murilo S...
Human Molecular Genetics. 29 (2020) 9 - p. 1465-1475 , 2020

Link: https://doi.org/10.1093/..

12

Additional information offered by single nucleotide polymor..:

Noronha, Thiago Rodrigo de ; Mitne-Neto, Miguel ; Chauffaille, Maria de Lourdes
Hematology, Transfusion and Cell Therapy. 41 (2019) 2 - p. 181-184 , 2019

Link: https://doi.org/10.1016/..

13

Development and validation of a variant detection workflow ..:

Buzolin, Ana Lígia ; Moreira, Caroline Mônaco ; Sacramento, Patricia Rossi...
Human Genomics. 11 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

14

DUOX2 Mutations Are Associated With Congenital Hypothyroidi..:

Kizys, Marina M L ; Louzada, Ruy A ; Mitne-Neto, Miguel...
The Journal of Clinical Endocrinology & Metabolism. 102 (2017) 11 - p. 4060-4071 , 2017

Link: https://doi.org/10.1210/..

15

CALR mutations screening in wild type JAK2V617F and MPLW515..:

Nunes, Daniela Prudente Teixeira ; de Lima, Luciene Terezina ; Chauffaille, Maria de Lourdes...
Blood Cells, Molecules, and Diseases. 55 (2015) 3 - p. 236-240 , 2015

Link: https://doi.org/10.1016/..