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Tiffany Busa

Showing results (1-10 of 74) with videos related to

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European Journal of Medical Genetics|September 11, 2016
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH geneTiffany Busa, Nicoleta Panait, Kathia Chaumoitre, et al.
Gene|November 6, 2012
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counselingTiffany Busa, Brigitte Chabrol, Odile Perret, et al.
European Journal of Medical Genetics|March 5, 2013
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twinsCornel Popovici, Tiffany Busa, Chantal Missirian, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndromeTiffany Busa, Mohammed Jeraiby, Alix Clémenson, et al.
American Journal of Medical Genetics. Part A|September 12, 2019
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologiesLinda Mouthon, Tiffany Busa, Florence Bretelle, et al.
American Journal of Medical Genetics. Part A|June 29, 2017
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve diseaseCaroline Ovaert, Tiffany Busa, Emilie Faure, et al.
Prenatal Diagnosis|April 11, 2016
Prenatal findings in children with early postnatal diagnosis of CHARGE syndromeTiffany Busa, Marine Legendre, Marie Bauge, et al.
American Journal of Medical Genetics. Part A|October 24, 2015
Prenatal findings in cardio-facio-cutaneous syndromeLudivine Templin, Clarisse Baumann, Tiffany Busa, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Whole ARX gene duplication is compatible with normal intellectual developmentCornel Popovici, Tiffany Busa, Odile Boute, et al.
Clinical Genetics|October 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletionsThorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, et al.
Pageof 8

Showing results (1-10 of 74) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|September 11, 2016
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH geneTiffany Busa, Nicoleta Panait, Kathia Chaumoitre, et al.
Gene|November 6, 2012
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counselingTiffany Busa, Brigitte Chabrol, Odile Perret, et al.
European Journal of Medical Genetics|March 5, 2013
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twinsCornel Popovici, Tiffany Busa, Chantal Missirian, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndromeTiffany Busa, Mohammed Jeraiby, Alix Clémenson, et al.
American Journal of Medical Genetics. Part A|September 12, 2019
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologiesLinda Mouthon, Tiffany Busa, Florence Bretelle, et al.
American Journal of Medical Genetics. Part A|June 29, 2017
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve diseaseCaroline Ovaert, Tiffany Busa, Emilie Faure, et al.
Prenatal Diagnosis|April 11, 2016
Prenatal findings in children with early postnatal diagnosis of CHARGE syndromeTiffany Busa, Marine Legendre, Marie Bauge, et al.
American Journal of Medical Genetics. Part A|October 24, 2015
Prenatal findings in cardio-facio-cutaneous syndromeLudivine Templin, Clarisse Baumann, Tiffany Busa, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Whole ARX gene duplication is compatible with normal intellectual developmentCornel Popovici, Tiffany Busa, Odile Boute, et al.
Clinical Genetics|October 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletionsThorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, et al.
Pageof 8