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Sherri Bale

Showing results (1-10 of 38) with videos related to

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Cold Spring Harbor Perspectives in Medicine|September 18, 2016
Clinical Versus Research SequencingYuriy Shevchenko, Sherri Bale
American Journal of Medical Genetics. Part A|April 23, 2018
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic motherEmma Bedoukian, Deborah Copenheaver, Sherri Bale, et al.
Dermatologic Therapy|February 7, 2013
Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapyGabriele Richard, Keith Choate, Leonard Milstone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2005
Technical standards and guidelines: molecular genetic testing for ultra-rare disordersAnne Maddalena, Sherri Bale, Soma Das, et al.
Genetic Testing and Molecular Biomarkers|December 17, 2010
Mutations in the CHD7 gene: the experience of a commercial laboratoryCynthia F Bartels, Cheryl Scacheri, Lashonda White, et al.
Pediatrics|May 1, 2009
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic featuresSoma Jyonouchi, Donna M McDonald-McGinn, Sherri Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2013
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopiesClaudia Matos-Miranda, Graeme Nimmo, Bradley Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2012
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databasesElizabeth J Leslie, Jennifer Standley, John Compton, et al.
Genetic Testing and Molecular Biomarkers|May 2, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratoryKrystien V Lieve, Leah Williams, Amy Daly, et al.
American Journal of Human Genetics|November 16, 2016
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized MedicineKathryn B Garber, Lisa M Vincent, John J Alexander, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
Cold Spring Harbor Perspectives in Medicine|September 18, 2016
Clinical Versus Research SequencingYuriy Shevchenko, Sherri Bale
American Journal of Medical Genetics. Part A|April 23, 2018
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic motherEmma Bedoukian, Deborah Copenheaver, Sherri Bale, et al.
Dermatologic Therapy|February 7, 2013
Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapyGabriele Richard, Keith Choate, Leonard Milstone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2005
Technical standards and guidelines: molecular genetic testing for ultra-rare disordersAnne Maddalena, Sherri Bale, Soma Das, et al.
Genetic Testing and Molecular Biomarkers|December 17, 2010
Mutations in the CHD7 gene: the experience of a commercial laboratoryCynthia F Bartels, Cheryl Scacheri, Lashonda White, et al.
Pediatrics|May 1, 2009
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic featuresSoma Jyonouchi, Donna M McDonald-McGinn, Sherri Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2013
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopiesClaudia Matos-Miranda, Graeme Nimmo, Bradley Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2012
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databasesElizabeth J Leslie, Jennifer Standley, John Compton, et al.
Genetic Testing and Molecular Biomarkers|May 2, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratoryKrystien V Lieve, Leah Williams, Amy Daly, et al.
American Journal of Human Genetics|November 16, 2016
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized MedicineKathryn B Garber, Lisa M Vincent, John J Alexander, et al.
Pageof 4