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Kim, Chong Ae
6595  results:
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1

Study of the peripheral and central auditory pathways in pa..:

Chimelo, Flávia Teixeira ; Silva, Liliane Aparecida Fagundes ; Neves-Lobo, Ivone Ferreira..
Journal of Communication Disorders.  107 (2024)  - p. 106402 , 2024
Link: https://doi.org/10.1016/..
 
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2

22q11.2 Deletion Syndrome: Influence of Parental Origin on ..:

de Wallau, Melissa Bittencourt ; Xavier, Ana Carolina ; Moreno, Carolina Araújo...
Genes.  15 (2024)  4 - p. 518 , 2024
Link: https://doi.org/10.3390/..
 
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3

Disease progression in Sanfilippo type B: Case series of Br..:

Montenegro, Yorran Hardman Araújo ; Kubaski, Francyne ; Trapp, Franciele Barbosa...
Genetics and Molecular Biology.  47 (2024)  1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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4

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/..
 
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5

Advantages of whole-exome sequencing over immunomapping in ..:

Kelmann, Samantha Vernaschi ; Stephan, Bruno de Oliveira ; Barbosa, Silvia Maria de Macedo...
Anais Brasileiros de Dermatologia.  99 (2024)  3 - p. 350-356 , 2024
Link: https://doi.org/10.1016/..
 
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6

Clinical Characterization and Underlying Genetic Findings i..:

Tolezano, Giovanna Cantini ; Bastos, Giovanna Civitate ; da Costa, Silvia Souza...
Molecular Neurobiology.  61 (2024)  8 - p. 5230-5247 , 2024
Link: https://doi.org/10.1007/..
 
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7

Neuropsychological Profile of 25 Brazilian Patients with 22..:

Pimenta, Larissa Salustiano Evangelista ; Mello, Claudia Berlim de ; Benedetto, Luciana Mello Di...
Genes.  15 (2024)  5 - p. 595 , 2024
Link: https://doi.org/10.3390/..
 
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8

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a..:

Inoue, Yuta ; Tsuchida, Naomi ; Kim, Chong Ae...
Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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9

Brazilian growth charts for Williams–Beuren Syndrome at age..:

Strafacci, Amanda de Sousa Lima ; Bertapelli, Fabio ; Kim, Chong Ae...
Jornal de Pediatria.  100 (2024)  3 - p. 277-282 , 2024
Link: https://doi.org/10.1016/..
 
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10

Trisomy 13 with unusual histological features typically des..:

Martins, Wilker Dias ; Chaves, Elisa França ; Aquino, Flavia Cristina Gonçalves de...
Autopsy Case Reports.  14 (2024)  - p. e2024486 , 2024
Link: https://doi.org/10.4322/..
 
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11

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disord..:

Imagawa, Eri ; Seyama, Rie ; Aoi, Hiromi...
Clinical Genetics.  103 (2023)  4 - p. 383-391 , 2023
Link: https://doi.org/10.1111/..
 
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12

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight ..:

Montenegro, Marília Moreira ; Camilotti, Débora ; Quaio, Caio Robledo D'Anglioli Costa...
The Journal of Pediatrics.  252 (2023)  - p. 56-60.e2 , 2023
Link: https://doi.org/10.1016/..
 
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13

Biallelic structural variations withinFGF12detected by long..:

Ohori, Sachiko ; Miyauchi, Akihiko ; Osaka, Hitoshi...
Life Science Alliance.  6 (2023)  8 - p. e202302025 , 2023
Link: https://doi.org/10.26508..
 
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14

Parental attitudes and beliefs about sexuality of individua..:

Monteiro, Rebeca Orselli ; Tafla, Tally Lichtensztejn ; Rodriguez, Juliana Dalla Martha...
Journal of Applied Research in Intellectual Disabilities.  36 (2023)  6 - p. 1345-1353 , 2023
Link: https://doi.org/10.1111/..
 
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15

Frequency of carriers for rare metabolic diseases in a Braz..:

Quaio, Caio Robledo D' Angioli Costa ; Moreira, Caroline Monaco ; Chung, Christine Hsiaoyun...
Molecular Biology Reports.  49 (2022)  5 - p. 3911-3918 , 2022
Link: https://doi.org/10.1007/..
 
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