Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Chong Ae Kim

Showing results (41-50 of 150) with videos related to

Pageof 15
Sort By:
Journal of Medical Case Reports|January 1, 2014
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reportsMarilia Borges Moreira, Caio Robledo Dc Quaio, Aline Cristina Zandoná-Teixeira, et al.
Journal of Applied Genetics|December 19, 2012
Ring chromosome 10: report on two patients and review of the literatureRoberta Santos Guilherme, Chong Ae Kim, Luis Garcia Alonso, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvementFelippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, et al.
Genetic Testing and Molecular Biomarkers|June 29, 2010
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromesAmanda Salem Brasil, Alexandre C Pereira, Luciana Turolla Wanderley, et al.
Arquivos Brasileiros De Endocrinologia E Metabologia|February 23, 2011
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Amanda Salem Brasil, Alexsandra C Malaquias, Luciana Turolla Wanderley, et al.
BMC Medical Genetics|February 21, 2020
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestationRachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, et al.
Biomed Research International|June 20, 2015
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPARachel Sayuri Honjo, Roberta Lelis Dutra, Erika Arai Furusawa, et al.
Genetic Testing|December 17, 2008
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian originChong Ae Kim, Rachel Honjo, Débora Bertola, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|December 14, 2011
The first cardiac transplant experience in a patient with mucopolysaccharidosisHenrique Grinberg, Caio Robledo D'Angioli Costa Quaio, Monica Samuel Avila, et al.
European Journal of Medical Genetics|August 15, 2024
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansionEduardo Da Cás, Lucas V L Pires, Bianca D W Linnenkamp, et al.
Pageof 15

Showing results (41-50 of 150) with videos related to

Sort By:
Pageof 15
Journal of Medical Case Reports|January 1, 2014
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reportsMarilia Borges Moreira, Caio Robledo Dc Quaio, Aline Cristina Zandoná-Teixeira, et al.
Journal of Applied Genetics|December 19, 2012
Ring chromosome 10: report on two patients and review of the literatureRoberta Santos Guilherme, Chong Ae Kim, Luis Garcia Alonso, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvementFelippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, et al.
Genetic Testing and Molecular Biomarkers|June 29, 2010
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromesAmanda Salem Brasil, Alexandre C Pereira, Luciana Turolla Wanderley, et al.
Arquivos Brasileiros De Endocrinologia E Metabologia|February 23, 2011
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Amanda Salem Brasil, Alexsandra C Malaquias, Luciana Turolla Wanderley, et al.
BMC Medical Genetics|February 21, 2020
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestationRachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, et al.
Biomed Research International|June 20, 2015
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPARachel Sayuri Honjo, Roberta Lelis Dutra, Erika Arai Furusawa, et al.
Genetic Testing|December 17, 2008
A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian originChong Ae Kim, Rachel Honjo, Débora Bertola, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|December 14, 2011
The first cardiac transplant experience in a patient with mucopolysaccharidosisHenrique Grinberg, Caio Robledo D'Angioli Costa Quaio, Monica Samuel Avila, et al.
European Journal of Medical Genetics|August 15, 2024
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansionEduardo Da Cás, Lucas V L Pires, Bianca D W Linnenkamp, et al.
Pageof 15