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Chong Ae Kim

Showing results (121-130 of 150) with videos related to

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Molecular Neurobiology|January 5, 2024
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental DisordersGiovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Genetics and Molecular Biology|April 2, 2014
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil NetworkAlícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.
American Journal of Medical Genetics. Part A|November 22, 2021
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil NetworkYorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, et al.
Orphanet Journal of Rare Diseases|May 23, 2021
Mucopolysaccharidosis VII in Brazil: natural history and clinical findingsRoberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, et al.
American Journal of Medical Genetics. Part A|January 23, 2024
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in BrazilMichele P Migliavacca, Joselito Sobreira, Diana Bermeo, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Pageof 15

Showing results (121-130 of 150) with videos related to

Sort By:
Pageof 15
Molecular Neurobiology|January 5, 2024
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental DisordersGiovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Genetics and Molecular Biology|April 2, 2014
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil NetworkAlícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.
American Journal of Medical Genetics. Part A|November 22, 2021
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil NetworkYorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, et al.
Orphanet Journal of Rare Diseases|May 23, 2021
Mucopolysaccharidosis VII in Brazil: natural history and clinical findingsRoberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, et al.
American Journal of Medical Genetics. Part A|January 23, 2024
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in BrazilMichele P Migliavacca, Joselito Sobreira, Diana Bermeo, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Pageof 15