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Swaroop Aradhya

Showing results (11-20 of 87) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2012
A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexityKavita S Reddy, Swaroop Aradhya, Jeanne Meck, et al.
The Journal of Investigative Dermatology|March 11, 2006
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosisKelly A McGowan, Swaroop Aradhya, Helmut Fuchs, et al.
American Journal of Medical Genetics. Part A|November 2, 2011
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic featuresVazken M Der Kaloustian, Laura Russell, Swaroop Aradhya, et al.
Genomics|August 6, 2002
The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autismTakanori Yamagata, Swaroop Aradhya, Masato Mori, et al.
Reproductive Biomedicine Online|February 12, 2025
Derivative and non-derivative aneuploidy rates in PGT tested blastocysts from carriers of structural rearrangementsLauren Walters-Sen, Dana Neitzel, Rachel E Ellsworth, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndromeMohamed Khalifa, Jennifer Stein, Lance Grau, et al.
Frontiers in Immunology|June 27, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary ImmunodeficiencyJessica Quinn, Vicki Modell, Britt Johnson, et al.
Kidney International Reports|October 18, 2023
High-Throughput Splicing Assays Identify Known and Novel <i>WT1</i> Exon 9 Variants in Nephrotic SyndromeCathy Smith, Bala Bharathi Burugula, Ian Dunn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2018
Prevalence and properties of intragenic copy-number variation in Mendelian disease genesRebecca Truty, Joshua Paul, Michael Kennemer, et al.
American Journal of Medical Genetics. Part A|May 16, 2022
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significanceBritt Johnson, Karen Ouyang, Lauren Frank, et al.
Pageof 9

Showing results (11-20 of 87) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2012
A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexityKavita S Reddy, Swaroop Aradhya, Jeanne Meck, et al.
The Journal of Investigative Dermatology|March 11, 2006
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosisKelly A McGowan, Swaroop Aradhya, Helmut Fuchs, et al.
American Journal of Medical Genetics. Part A|November 2, 2011
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic featuresVazken M Der Kaloustian, Laura Russell, Swaroop Aradhya, et al.
Genomics|August 6, 2002
The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autismTakanori Yamagata, Swaroop Aradhya, Masato Mori, et al.
Reproductive Biomedicine Online|February 12, 2025
Derivative and non-derivative aneuploidy rates in PGT tested blastocysts from carriers of structural rearrangementsLauren Walters-Sen, Dana Neitzel, Rachel E Ellsworth, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndromeMohamed Khalifa, Jennifer Stein, Lance Grau, et al.
Frontiers in Immunology|June 27, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary ImmunodeficiencyJessica Quinn, Vicki Modell, Britt Johnson, et al.
Kidney International Reports|October 18, 2023
High-Throughput Splicing Assays Identify Known and Novel <i>WT1</i> Exon 9 Variants in Nephrotic SyndromeCathy Smith, Bala Bharathi Burugula, Ian Dunn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 14, 2018
Prevalence and properties of intragenic copy-number variation in Mendelian disease genesRebecca Truty, Joshua Paul, Michael Kennemer, et al.
American Journal of Medical Genetics. Part A|May 16, 2022
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significanceBritt Johnson, Karen Ouyang, Lauren Frank, et al.
Pageof 9