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Chong Ae Kim

Showing results (141-150 of 150) with videos related to

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Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophyMasamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 1, 2020
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesCaio Robledo D'Angioli Costa Quaio, Caroline Monaco Moreira, Gil Monteiro Novo-Filho, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Orphanet Journal of Rare Diseases|October 31, 2024
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases NetworkBibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Pageof 15

Showing results (141-150 of 150) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 150 results.
Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophyMasamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 1, 2020
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesCaio Robledo D'Angioli Costa Quaio, Caroline Monaco Moreira, Gil Monteiro Novo-Filho, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Orphanet Journal of Rare Diseases|October 31, 2024
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases NetworkBibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
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