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Kay Metcalfe

Showing results (1-10 of 51) with videos related to

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World Journal of Pediatrics : WJP|November 23, 2011
Trisomy 18 mosaicism: report of two casesSiddharth Banka, Kay Metcalfe, Jill Clayton-Smith
Clinical Dysmorphology|March 17, 2005
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay Metcalfe, Emil Simeonov, William Beckett, et al.
European Journal of Medical Genetics|October 27, 2019
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variabilitySchaida Schirwani, Kay Metcalfe, Bart Wagner, et al.
European Journal of Human Genetics : EJHG|April 22, 2004
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndromeHannah J Tipney, Timothy A Hinsley, Andrew Brass, et al.
Heart (British Cardiac Society)|April 17, 2012
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicatedJane Caldwell, Natalie Moreton, Naz Khan, et al.
Archives of Disease in Childhood|July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou, Catherine Breen, Yanick J Crow, et al.
Journal of Neurodevelopmental Disorders|July 25, 2014
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsHannah Broadbent, Emily K Farran, Esther Chin, et al.
The Journal of Biological Chemistry|April 26, 2011
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensationJustin W Leung, Andrea Leitch, Jamie L Wood, et al.
Reproductive Biomedicine Online|July 5, 2022
Homozygous missense variants in BMPR15 can result in primary ovarian insufficiencyLeigh A M Demain, Kay Metcalfe, Eline Boetje, et al.
Frontiers in Psychology|June 5, 2012
Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patientsAnnette Karmiloff-Smith, Hannah Broadbent, Emily K Farran, et al.
Pageof 6

Showing results (1-10 of 51) with videos related to

Sort By:
Pageof 6
World Journal of Pediatrics : WJP|November 23, 2011
Trisomy 18 mosaicism: report of two casesSiddharth Banka, Kay Metcalfe, Jill Clayton-Smith
Clinical Dysmorphology|March 17, 2005
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay Metcalfe, Emil Simeonov, William Beckett, et al.
European Journal of Medical Genetics|October 27, 2019
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variabilitySchaida Schirwani, Kay Metcalfe, Bart Wagner, et al.
European Journal of Human Genetics : EJHG|April 22, 2004
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndromeHannah J Tipney, Timothy A Hinsley, Andrew Brass, et al.
Heart (British Cardiac Society)|April 17, 2012
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicatedJane Caldwell, Natalie Moreton, Naz Khan, et al.
Archives of Disease in Childhood|July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou, Catherine Breen, Yanick J Crow, et al.
Journal of Neurodevelopmental Disorders|July 25, 2014
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsHannah Broadbent, Emily K Farran, Esther Chin, et al.
The Journal of Biological Chemistry|April 26, 2011
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensationJustin W Leung, Andrea Leitch, Jamie L Wood, et al.
Reproductive Biomedicine Online|July 5, 2022
Homozygous missense variants in BMPR15 can result in primary ovarian insufficiencyLeigh A M Demain, Kay Metcalfe, Eline Boetje, et al.
Frontiers in Psychology|June 5, 2012
Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patientsAnnette Karmiloff-Smith, Hannah Broadbent, Emily K Farran, et al.
Pageof 6