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Meredith Wilson

Showing results (31-40 of 68) with videos related to

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Pathology|March 31, 2007
Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testingRonald J Trent, Boyd Webster, Donald K Bowden, et al.
Clinical Genetics|September 11, 2019
A deep intronic SMARCB1 variant associated with schwannomatosisMiriam J Smith, Naomi L Bowers, Catherine Banks, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.
Genes, Chromosomes & Cancer|April 18, 2009
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter studyPaul A James, Bronwyn Culling, Glenda Mullan, et al.
American Journal of Human Genetics|August 5, 2022
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Roberto Buccafusca, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
American Journal of Human Genetics|June 12, 2024
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Roberto Buccafusca, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
American Journal of Medical Genetics. Part A|January 10, 2015
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patientsGuillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardationMatthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
Pageof 7

Showing results (31-40 of 68) with videos related to

Sort By:
Pageof 7
Pathology|March 31, 2007
Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testingRonald J Trent, Boyd Webster, Donald K Bowden, et al.
Clinical Genetics|September 11, 2019
A deep intronic SMARCB1 variant associated with schwannomatosisMiriam J Smith, Naomi L Bowers, Catherine Banks, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.
Genes, Chromosomes & Cancer|April 18, 2009
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter studyPaul A James, Bronwyn Culling, Glenda Mullan, et al.
American Journal of Human Genetics|August 5, 2022
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Roberto Buccafusca, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
American Journal of Human Genetics|June 12, 2024
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenitaHemanth Tummala, Amanda Walne, Roberto Buccafusca, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
American Journal of Medical Genetics. Part A|January 10, 2015
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patientsGuillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardationMatthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
Pageof 7