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Denise Williams

Showing results (71-80 of 95) with videos related to

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European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
Nature Genetics|October 7, 2008
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumorRichard H Scott, Jenny Douglas, Linda Baskcomb, et al.
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Haematologica|August 13, 2016
Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescentsAndishe Attarbaschi, Elisa Carraro, Oussama Abla, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
The Lancet. Child & Adolescent Health|March 20, 2019
Identification of new Wilms tumour predisposition genes: an exome sequencing studyShazia Mahamdallie, Shawn Yost, Emma Poyastro-Pearson, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 26, 2015
Non-Hodgkin Lymphoma in Children and Adolescents: Progress Through Effective Collaboration, Current Knowledge, and Challenges AheadVéronique Minard-Colin, Laurence Brugières, Alfred Reiter, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Oncotarget|April 4, 2012
Stratification of Wilms tumor by genetic and epigenetic analysisRichard H Scott, Anne Murray, Linda Baskcomb, et al.
JCI Insight|December 22, 2025
Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome from a lymphatic perspectiveKazim Ogmen, Sara E Dobbins, Rose Yinghan Behncke, et al.
Pageof 10

Showing results (71-80 of 95) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
Nature Genetics|October 7, 2008
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumorRichard H Scott, Jenny Douglas, Linda Baskcomb, et al.
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Haematologica|August 13, 2016
Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescentsAndishe Attarbaschi, Elisa Carraro, Oussama Abla, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
The Lancet. Child & Adolescent Health|March 20, 2019
Identification of new Wilms tumour predisposition genes: an exome sequencing studyShazia Mahamdallie, Shawn Yost, Emma Poyastro-Pearson, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 26, 2015
Non-Hodgkin Lymphoma in Children and Adolescents: Progress Through Effective Collaboration, Current Knowledge, and Challenges AheadVéronique Minard-Colin, Laurence Brugières, Alfred Reiter, et al.
American Journal of Human Genetics|November 27, 2020
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathyAndrew E Fry, Christopher Marra, Anna V Derrick, et al.
Oncotarget|April 4, 2012
Stratification of Wilms tumor by genetic and epigenetic analysisRichard H Scott, Anne Murray, Linda Baskcomb, et al.
JCI Insight|December 22, 2025
Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome from a lymphatic perspectiveKazim Ogmen, Sara E Dobbins, Rose Yinghan Behncke, et al.
Pageof 10