Chong Ae Kim
Universidade de São Paulo
H-index: 47
Latin America-Brazil
Top articles of Chong Ae Kim
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Study of the peripheral and central auditory pathways in patients with mucopolysaccharidosis | Journal of Communication Disorders | Flávia Teixeira Chimelo Liliane Aparecida Fagundes Silva Ivone Ferreira Neves-Lobo Chong Ae Kim Carla Gentile Matas | 2024/1/1 |
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability | Journal of Human Genetics | Yuta Inoue Naomi Tsuchida Chong Ae Kim Bruno de Oliveira Stephan Matheus Augusto Araujo Castro | 2024/1/17 |
Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature | Giovanna Cantini Tolezano Giovanna Civitate Bastos Silvia Souza da Costa Bruna Lucheze Freire Thais Kataoka Homma | 2022/12/11 | |
22q11. 2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity | Genes | Melissa Bittencourt de Wallau Ana Carolina Xavier Carolina Araújo Moreno Chong Ae Kim Elaine Lustosa Mendes | 2024/4/21 |
Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years | Jornal de Pediatria | Amanda de Sousa Lima Strafacci Fabio Bertapelli Chong Ae Kim Maria José Rivadeneira Rachel Sayuri Honjo | 2024/1/2 |
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa | Anais Brasileiros de Dermatologia | Samantha Vernaschi Kelmann Bruno de Oliveira Stephan Silvia Maria de Macedo Barbosa Rita Tiziana Verardo Polastrini Zilda Najjar Prado de Oliveira | 2024/2/16 |
Anais Brasileiros de | Anais Brasileiros de Dermatologia | Yıldız Gürsel Ürün Nuray Can Merve Bagıs Sezgi Sarıkaya Solak Mustafa Ürün | 2023 |
GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases. | Medrxiv: the Preprint Server for Health Sciences | H Lesmann A Hustinx S Moosa E Marchi P Caro | 2024/3/8 |
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder | Eri Imagawa Rie Seyama Hiromi Aoi Yuri Uchiyama Bruno Guimaraes Marcarini | 2023/4 | |
Stroke in vascular Ehlers-Danlos syndrome | Practical Neurology | Rebecca Ranzani Martins Mauricio Leonardo da Silva Paiva Weverton Carlos da Silva Teixeira Rachel Sayuri Honjo Kawahira Fernando Freua | 2023/10/1 |
Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome | Journal of Applied Research in Intellectual Disabilities | Rebeca Orselli Monteiro Tally Lichtensztejn Tafla Juliana Dalla Martha Rodriguez Sabine Triguero Teixeira Rachel Sayuri Honjo | 2023/11 |
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p | Molecular syndromology | Vanessa T Almeida Samar N Chehimi Yanca Gasparini Amom M Nascimento Gleyson FS Carvalho | 2023/1/5 |
Investigation of copy number variations as possible genetic modifiers in patients with the 22q11. 2 deletion syndrome | Beatriz Carvalho Nunes Malu Zamariolli Anelisa Gollo Dantas Diogo Cordeiro Queiroz SOARES Chong KIM | 2023 | |
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy | Life Science Alliance | Sachiko Ohori Akihiko Miyauchi Hitoshi Osaka Charles Marques Lourenco Naohiro Arakaki | 2023/8/1 |
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals | Genetics in Medicine | Ken Saida Reza Maroofian Toru Sengoku Tadahiro Mitani Alistair T Pagnamenta | 2023/1/1 |
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome | Journal of medical genetics | Ricardo Di Lazzaro Filho Guilherme Lopes Yamamoto Tiago J Silva Leticia A Rocha Bianca DW Linnenkamp | 2023/11/1 |
Expanding the phenotype of 8p23. 1 deletion syndrome: eight new cases resembling the clinical spectrum of 22q11. 2 microdeletion | The Journal of Pediatrics | Marília Moreira Montenegro Débora Camilotti Caio Robledo D’Anglioli Costa Quaio Yanca Gasparini Évelin Aline Zanardo | 2023/1/1 |
Phenotypic heterogeneity in 22q11. 2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort | American Journal of Medical Genetics Part A | M Zamariolli AG Dantas N Nunes M Moysés‐Oliveira IC Sgardioli | 2023/5 |
O perfil audiológico ea funcionalidade coclear na síndrome de Williams | CoDAS | Liliane Aparecida Fagundes Silva Rachel Sayuri Honjo Kawahira Chong Ae Kim Carla Gentile Matas | 2022/1/12 |
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry | American Journal of Medical Genetics Part A | Taccyanna M Ali Bianca DW Linnenkamp Guilherme L Yamamoto Rachel S Honjo Hamilton Cabral de Menezes Filho | 2022/5 |
