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Sarah E Noon

Showing results (1-10 of 13) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 21, 2016
Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic featuresOlivia L Katz, Ian D Krantz, Sarah E Noon
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 15, 2016
A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing lossJianhua Zhao, Sarah E Noon, Ian D Krantz, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 11, 2016
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndromeCara N Cacioppo, Laura J Conway, Devanshi Mehta, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2016
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severityManinder Kaur, Devanshi Mehta, Sarah E Noon, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 5, 2016
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnosesKathleen January, Laura J Conway, Matthew Deardorff, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinicDevanshi Mehta, Sarah E Noon, Emily Schwartz, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 28, 2016
Characterization of limb differences in children with Cornelia de Lange SyndromeDevanshi Mehta, Samantha A Schrier Vergano, Matthew Deardorff, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 22, 2012
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatmentDavid N Finegold, Catherine J Baty, Kelly Z Knickelbein, et al.
Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 21, 2016
Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic featuresOlivia L Katz, Ian D Krantz, Sarah E Noon
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 15, 2016
A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing lossJianhua Zhao, Sarah E Noon, Ian D Krantz, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 11, 2016
Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndromeCara N Cacioppo, Laura J Conway, Devanshi Mehta, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 30, 2016
NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severityManinder Kaur, Devanshi Mehta, Sarah E Noon, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 5, 2016
Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnosesKathleen January, Laura J Conway, Matthew Deardorff, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinicDevanshi Mehta, Sarah E Noon, Emily Schwartz, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 28, 2016
Characterization of limb differences in children with Cornelia de Lange SyndromeDevanshi Mehta, Samantha A Schrier Vergano, Matthew Deardorff, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 22, 2012
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatmentDavid N Finegold, Catherine J Baty, Kelly Z Knickelbein, et al.
Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Pageof 2