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Sherri Bale

Showing results (31-40 of 38) with videos related to

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The Journal of Molecular Diagnostics : JMD|September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testingShannon D Barker, Sherri Bale, Jessica Booker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testingLisa R Susswein, Megan L Marshall, Rachel Nusbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata L L Ferreira de Lima, Sarah A Hoper, Michella Ghassibe, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypesSilvia Martin-Almedina, Kazim Ogmen, Ege Sackey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2021
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypesSilvia Martin-Almedina, Kazim Ogmen, Ege Sackey, et al.
Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
The Journal of Molecular Diagnostics : JMD|September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testingShannon D Barker, Sherri Bale, Jessica Booker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testingLisa R Susswein, Megan L Marshall, Rachel Nusbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2009
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata L L Ferreira de Lima, Sarah A Hoper, Michella Ghassibe, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypesSilvia Martin-Almedina, Kazim Ogmen, Ege Sackey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2021
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypesSilvia Martin-Almedina, Kazim Ogmen, Ege Sackey, et al.
Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
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