Suchergebnisse - "Yamamoto, Guilherme"

PubPharm (97)

1

Burden of Rare Copy Number Variants in Microcephaly : A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

enthalten in: Journal of autism and developmental disorders | 2024

von Tolezano, G. | Bastos, G. | da Costa, S. | +12

2

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units : A pilot study in Brazil

enthalten in: American journal of medical genetics. Part A | 2024

von Migliavacca, M. | Sobreira, J. | Bermeo, D. | +25

3

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders

enthalten in: Molecular neurobiology | 2024

von Tolezano, G. | Bastos, G. | da Costa, S. | +14

4

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

enthalten in: Journal of medical genetics | 2023

von Di Lazzaro Filho, R. | Yamamoto, G. | Silva, T. | +19

5

A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis

enthalten in: Diagnostics (Basel, Switzerland) | 2023

von Guarischi-Sousa, R. | Kroll, J. | Bonaldi, A. | +14

6

HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad’s myChoice®, SOPHiA GENETICS® SOPHiA Homologous Recombination Solution and AmoyDx® HRD Focus Panel

enthalten in: bioRxiv.org | 2023

von Guarischi-Sousa, R. | Kroll, J. | Bonaldi, A. | +9

7

A dopamine receptor D2 genetic polymorphism associated with transition to mental disorders in a cohort of individuals with at-risk mental state for psychosis

enthalten in: Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) | 2023

von Marques, J. | Talib, L. | Hortêncio, L. | +8

8

Nemaline Myopathy in Brazilian Patients : Molecular and Clinical Characterization

enthalten in: International journal of molecular sciences | 2022

von Gurgel-Giannetti, J. | Souza, L. | Yamamoto, G. | +15

9

Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil)

enthalten in: bioRxiv.org | 2022

von Naslavsky, M. | Scliar, M. | Yamamoto, G. | +35

10

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry

enthalten in: American journal of medical genetics. Part A | 2022

von Ali, T. | Linnenkamp, B. | Yamamoto, G. | +4

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