E-LIB Suche - Ergebnisse für: Yamamoto, Guilherme L

1

Whole genome sequencing as a first‐tier diagnostic test for..:

Migliavacca, Michele P. ; Sobreira, Joselito ; Bermeo, Diana...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

2

Nemaline Myopathy in Brazilian Patients: Molecular and Clin..:

Gurgel-Giannetti, Juliana ; Souza, Lucas Santos ; Yamamoto, Guilherme L....
International Journal of Molecular Sciences. 23 (2022) 19 - p. 11995 , 2022

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

3

The recurrent homozygous translation start site variant in ..:

Ali, Taccyanna M. ; Linnenkamp, Bianca D. W. ; Yamamoto, Guilherme L....
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1545-1549 , 2022

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

4

Author Correction: Whole-genome sequencing of 1,171 elderly..:

Naslavsky, Michel S. ; Scliar, Marilia O. ; Yamamoto, Guilherme L....
Nature Communications. 13 (2022) 1 - p. , 2022

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

5

Vertebral segmentation defects in a Brazilian cohort: Clini..:

Linnenkamp, Bianca ; Girardi, Raissa ; Rocha, Letícia...
Clinical Genetics. 101 (2022) 4 - p. 476-478 , 2022

Link: https://doi.org/10.1111/..

6

Whole-genome sequencing of 1,171 elderly admixed individual..:

Naslavsky, Michel S. ; Scliar, Marilia O. ; Yamamoto, Guilherme L....
Nature Communications. 13 (2022) 1 - p. , 2022

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

7

Thyroid and Breast Cancer in 2 Sisters With Monoallelic Mut..:

Miasaki, Fabíola Y ; Saito, Kelly C ; Yamamoto, Guilherme L...
Journal of the Endocrine Society. 6 (2022) 4 - p. , 2022

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

8

Admixture/fine-mapping in Brazilians reveals a West African..:

Scliar, Marilia O. ; Sant'Anna, Hanaisa P. ; Santolalla, Meddly L....
International Journal of Obesity. 45 (2021) 5 - p. 1017-1029 , 2021

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

9

Biased pathogenic assertions of loss of function variants c..:

Naslavsky, Michel S. ; Scliar, Marília O. ; Nunes, Kelly...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 3 - p. 357-363 , 2021

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

10

Altered in vitro muscle differentiation in X-linked myopath..:

Fernandes, Stephanie A. ; Almeida, Camila F. ; Souza, Lucas S....
Disease Models & Mechanisms. 13 (2020) 2 - p. , 2020

Link: https://doi.org/10.1242/..

11

Gene expression profile suggesting immunological dysregulat..:

Montenegro, Marilia M. ; Quaio, Caio R. ; Palmeira, Patricia...
Molecular Genetics & Genomic Medicine. 8 (2020) 4 - p. , 2020

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

12

Germline variants of Brazilian women with breast cancer and..:

Bandeira, Gabriel ; Rocha, Katia ; Lazar, Monize...
Breast Cancer. 28 (2020) 2 - p. 346-354 , 2020

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

13

Phenotype–genotype analysis of 242 individuals with RASopat..:

Bertola, Débora R. ; Castro, Matheus A. A. ; Yamamoto, Guilherme L....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2020) 4 - p. 896-911 , 2020

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

14

Structural variation of the malaria-associated human glycop..:

Louzada, Sandra ; Algady, Walid ; Weyell, Eleanor...
BMC Genomics. 21 (2020) 1 - p. , 2020

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

15

Novel fibronectin mutations and expansion of the phenotype ..:

Costantini, Alice ; Valta, Helena ; Baratang, Nissan Vida...
Bone. 121 (2019) - p. 163-171 , 2019

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