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Chong Ae Kim

Showing results (111-120 of 150) with videos related to

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Experimental and Molecular Pathology|July 25, 2016
Post-mortem cytogenomic investigations in patients with congenital malformationsAlexandre Torchio Dias, Évelin Aline Zanardo, Roberta Lelis Dutra, et al.
Genomics|August 30, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndromeRie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, et al.
Human Reproduction (Oxford, England)|December 14, 2020
Insights from the genetic characterization of central precocious puberty associated with multiple anomaliesAna Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, et al.
The Journal of Pediatrics|October 22, 2019
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome SequencingThais Kataoka Homma, Bruna Lucheze Freire, Rachel Sayuri Honjo Kawahira, et al.
Frontiers in Molecular Neuroscience|October 24, 2022
A rigorous <i>in silico</i> genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disordersAfif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Diseases (Basel, Switzerland)|January 27, 2026
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil NetworkYorran Hardman Araújo Montenegro, Maria Fernanda Antero Alves, Simone Silva Dos Santos-Lopes, et al.
Genetics and Molecular Biology|March 15, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patientsYorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, et al.
Human Mutation|July 4, 2012
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeHolly Smith, Romain Galmes, Ekaterina Gogolina, et al.
The Journal of Pediatrics|September 6, 2022
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 MicrodeletionMarília Moreira Montenegro, Débora Camilotti, Caio Robledo D'Anglioli Costa Quaio, et al.
Journal of Medical Genetics|April 13, 2023
Biallelic variants in <i>DNA2</i> cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndromeRicardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, et al.
Pageof 15

Showing results (111-120 of 150) with videos related to

Sort By:
Pageof 15
Experimental and Molecular Pathology|July 25, 2016
Post-mortem cytogenomic investigations in patients with congenital malformationsAlexandre Torchio Dias, Évelin Aline Zanardo, Roberta Lelis Dutra, et al.
Genomics|August 30, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndromeRie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, et al.
Human Reproduction (Oxford, England)|December 14, 2020
Insights from the genetic characterization of central precocious puberty associated with multiple anomaliesAna Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, et al.
The Journal of Pediatrics|October 22, 2019
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome SequencingThais Kataoka Homma, Bruna Lucheze Freire, Rachel Sayuri Honjo Kawahira, et al.
Frontiers in Molecular Neuroscience|October 24, 2022
A rigorous <i>in silico</i> genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disordersAfif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, et al.
Diseases (Basel, Switzerland)|January 27, 2026
Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil NetworkYorran Hardman Araújo Montenegro, Maria Fernanda Antero Alves, Simone Silva Dos Santos-Lopes, et al.
Genetics and Molecular Biology|March 15, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patientsYorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, et al.
Human Mutation|July 4, 2012
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeHolly Smith, Romain Galmes, Ekaterina Gogolina, et al.
The Journal of Pediatrics|September 6, 2022
Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 MicrodeletionMarília Moreira Montenegro, Débora Camilotti, Caio Robledo D'Anglioli Costa Quaio, et al.
Journal of Medical Genetics|April 13, 2023
Biallelic variants in <i>DNA2</i> cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndromeRicardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, et al.
Pageof 15