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Lisa G Shaffer

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American Journal of Medical Genetics|February 22, 2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationAndré Mégarbané, Bassem A Bejjani, Lisa G Shaffer, et al.
Prenatal Diagnosis|July 23, 2008
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensLisa G Shaffer, Justine Coppinger, Sarah Alliman, et al.
Journal of Neurodevelopmental Disorders|July 7, 2011
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplicationsJill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, et al.
Genome Research|December 6, 2003
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolutionMelanie Babcock, Adam Pavlicek, Elizabeth Spiteri, et al.
Cytogenetic and Genome Research|February 9, 2018
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and PolandLisa G Shaffer, Christina J Ramirez, Patricia Phelps, et al.
Molecular Cytogenetics|August 12, 2009
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case reportRyan N Traylor, Zheng Fan, Beth Hudson, et al.
Prenatal Diagnosis|February 22, 2002
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangementsKathryn D McGowan, Joseph J Weiser, Juli Horwitz, et al.
American Journal of Human Genetics|December 31, 2002
Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunctionSue Ann Berend, Scott L Page, William Atkinson, et al.
Molecular Cytogenetics|January 9, 2009
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportRoland Haj, Kelly Jackson, Beth A Torchia, et al.
Pageof 22

Showing results (81-90 of 215) with videos related to

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American Journal of Medical Genetics|February 22, 2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationAndré Mégarbané, Bassem A Bejjani, Lisa G Shaffer, et al.
Prenatal Diagnosis|July 23, 2008
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensLisa G Shaffer, Justine Coppinger, Sarah Alliman, et al.
Journal of Neurodevelopmental Disorders|July 7, 2011
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplicationsJill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, et al.
Genome Research|December 6, 2003
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolutionMelanie Babcock, Adam Pavlicek, Elizabeth Spiteri, et al.
Cytogenetic and Genome Research|February 9, 2018
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and PolandLisa G Shaffer, Christina J Ramirez, Patricia Phelps, et al.
Molecular Cytogenetics|August 12, 2009
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case reportRyan N Traylor, Zheng Fan, Beth Hudson, et al.
Prenatal Diagnosis|February 22, 2002
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangementsKathryn D McGowan, Joseph J Weiser, Juli Horwitz, et al.
American Journal of Human Genetics|December 31, 2002
Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunctionSue Ann Berend, Scott L Page, William Atkinson, et al.
Molecular Cytogenetics|January 9, 2009
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportRoland Haj, Kelly Jackson, Beth A Torchia, et al.
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