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Kay Metcalfe

Showing results (11-20 of 51) with videos related to

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Clinical Genetics|April 20, 2019
The clinical presentation caused by truncating CHD8 variantsSofia Douzgou, Hui Wen Liang, Kay Metcalfe, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.
European Journal of Human Genetics : EJHG|October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literatureOliver Murch, Vani Jain, Andreas Benneche, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24William G Newman, Jill Clayton-Smith, Kay Metcalfe, et al.
Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.
Science (New York, N.Y.)|November 19, 2005
GTF2IRD1 in craniofacial development of humans and miceMay Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al.
Molecular Cell|May 15, 2018
Polε Instability Drives Replication Stress, Abnormal Development, and TumorigenesisRoberto Bellelli, Valerie Borel, Clare Logan, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
American Journal of Human Genetics|December 29, 2005
Discriminating power of localized three-dimensional facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.
Pageof 6

Showing results (11-20 of 51) with videos related to

Sort By:
Pageof 6
Clinical Genetics|April 20, 2019
The clinical presentation caused by truncating CHD8 variantsSofia Douzgou, Hui Wen Liang, Kay Metcalfe, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.
European Journal of Human Genetics : EJHG|October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literatureOliver Murch, Vani Jain, Andreas Benneche, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24William G Newman, Jill Clayton-Smith, Kay Metcalfe, et al.
Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.
Science (New York, N.Y.)|November 19, 2005
GTF2IRD1 in craniofacial development of humans and miceMay Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al.
Molecular Cell|May 15, 2018
Polε Instability Drives Replication Stress, Abnormal Development, and TumorigenesisRoberto Bellelli, Valerie Borel, Clare Logan, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
American Journal of Human Genetics|December 29, 2005
Discriminating power of localized three-dimensional facial morphologyPeter Hammond, Tim J Hutton, Judith E Allanson, et al.
Pageof 6