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Meena Balasubramanian

Showing results (1-10 of 112) with videos related to

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BMJ Case Reports|March 8, 2022
First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?James Taylor, Meena Balasubramanian
Clinical Dysmorphology|December 17, 2009
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizuresMeena Balasubramanian, Michael J Parker
European Journal of Medical Genetics|May 7, 2009
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver SyndromeMeena Balasubramanian, Amanda L Collins
European Journal of Medical Genetics|June 17, 2018
MAN1B-CDG: Novel variants with a distinct phenotype and review of literatureMeena Balasubramanian, Diana S Johnson,
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 28, 2013
Short sternum: feature of trisomy chromosome 7 and a new association?Meena Balasubramanian, Luiz Cesar Peres
American Journal of Medical Genetics. Part A|November 25, 2021
Report of two children with global developmental delay in association with de novo TLK2 variant and literature reviewEmily Woods, Michael Spiller, Meena Balasubramanian
Clinical Dysmorphology|August 22, 2014
Congenital myotonic dystrophy: natural disease progression and facial dysmorphologyMeena Balasubramanian, Richard Sayers, Joanne Martindale
Clinical Dysmorphology|December 15, 2017
Clinical and molecular characterization of the first familial report of 1p32 microdeletionSchaida Schirwani, Kath Smith, Meena Balasubramanian
Clinical Dysmorphology|October 19, 2016
Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boyAshley Cartwright, Kath Smith, Meena Balasubramanian
European Journal of Medical Genetics|March 3, 2022
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature reviewNatalie Batey, Michael Spiller, Meena Balasubramanian
Pageof 12

Showing results (1-10 of 112) with videos related to

Sort By:
Pageof 12
BMJ Case Reports|March 8, 2022
First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?James Taylor, Meena Balasubramanian
Clinical Dysmorphology|December 17, 2009
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizuresMeena Balasubramanian, Michael J Parker
European Journal of Medical Genetics|May 7, 2009
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver SyndromeMeena Balasubramanian, Amanda L Collins
European Journal of Medical Genetics|June 17, 2018
MAN1B-CDG: Novel variants with a distinct phenotype and review of literatureMeena Balasubramanian, Diana S Johnson,
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 28, 2013
Short sternum: feature of trisomy chromosome 7 and a new association?Meena Balasubramanian, Luiz Cesar Peres
American Journal of Medical Genetics. Part A|November 25, 2021
Report of two children with global developmental delay in association with de novo TLK2 variant and literature reviewEmily Woods, Michael Spiller, Meena Balasubramanian
Clinical Dysmorphology|August 22, 2014
Congenital myotonic dystrophy: natural disease progression and facial dysmorphologyMeena Balasubramanian, Richard Sayers, Joanne Martindale
Clinical Dysmorphology|December 15, 2017
Clinical and molecular characterization of the first familial report of 1p32 microdeletionSchaida Schirwani, Kath Smith, Meena Balasubramanian
Clinical Dysmorphology|October 19, 2016
Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boyAshley Cartwright, Kath Smith, Meena Balasubramanian
European Journal of Medical Genetics|March 3, 2022
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature reviewNatalie Batey, Michael Spiller, Meena Balasubramanian
Pageof 12