Chong Ae Kim

30PUBLICATIONS
296CO-AUTHORS
Respiratory diseasesCancer geneticsDevelopmental genetics (incl. sex determination)Medical bacteriologyNeurology and neuromuscular diseases
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Publications (30)

|Sep 15, 2026
Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.

|Jun 29, 2026
Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.

|Feb 27, 2026
Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

Larissa Salustiano Evangelista Pimenta, Claudia Berlim de Mello, Guilherme V Polanczyk

|Jan 27, 2026
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Yorran Hardman Araújo Montenegro, Maria Fernanda Antero Alves, Simone Silva Dos Santos-Lopes

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Aug 05, 2025
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Caroline Brandão Piai, Gabriela Yumi Goto Salti, Marcella Cardoso Allegro

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Frequent Collaborators

7 joint publications

Naomichi Matsumoto

6 joint publications

Matheus Augusto Araujo Castro

5 joint publications

Rachel Sayuri Honjo Kawahira

5 joint publications

Yuri Uchiyama