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Cytogenetic and Genome Research
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July 27, 2017
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, et al.
Case Reports in Oncology
|
May 12, 2021
5' <i>ALK</i> Amplification in Neuroblastoma: A Case Report
Sara Akhavanfard, Erik Nohr, Mohammad AlNajjar, et al.
Molecular Genetics & Genomic Medicine
|
March 25, 2015
Variability in pathogenicity prediction programs: impact on clinical diagnostics
Lauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11
Mariana Kekis, Carol Deeg, Sayaka Hashimoto, et al.
European Journal of Medical Genetics
|
May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia
Lauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
ACS Applied Materials & Interfaces
|
June 4, 2021
Incoherent Optical Tweezers on Black Titanium
Sayaka Hashimoto, Yuki Uenobo, Ryota Takao, et al.
European Journal of Human Genetics : EJHG
|
May 23, 2013
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
Michelle B Polan, Matthew T Pastore, Katherine Steingass, et al.
European Journal of Medical Genetics
|
March 25, 2018
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant
Elizabeth S Barrie, Yu Li, Devon Lamb-Thrush, et al.
Muscle & Nerve
|
October 4, 2023
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions
Alayne P Meyer, Jianing Ma, Guy Brock, et al.
American Journal of Medical Genetics. Part A
|
June 26, 2010
Newborn and carrier screening for spinal muscular atrophy
Thomas W Prior, Pamela J Snyder, Britton D Rink, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
Cytogenetic and Genome Research
|
July 27, 2017
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, et al.
Case Reports in Oncology
|
May 12, 2021
5' <i>ALK</i> Amplification in Neuroblastoma: A Case Report
Sara Akhavanfard, Erik Nohr, Mohammad AlNajjar, et al.
Molecular Genetics & Genomic Medicine
|
March 25, 2015
Variability in pathogenicity prediction programs: impact on clinical diagnostics
Lauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11
Mariana Kekis, Carol Deeg, Sayaka Hashimoto, et al.
European Journal of Medical Genetics
|
May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia
Lauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
ACS Applied Materials & Interfaces
|
June 4, 2021
Incoherent Optical Tweezers on Black Titanium
Sayaka Hashimoto, Yuki Uenobo, Ryota Takao, et al.
European Journal of Human Genetics : EJHG
|
May 23, 2013
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
Michelle B Polan, Matthew T Pastore, Katherine Steingass, et al.
European Journal of Medical Genetics
|
March 25, 2018
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant
Elizabeth S Barrie, Yu Li, Devon Lamb-Thrush, et al.
Muscle & Nerve
|
October 4, 2023
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions
Alayne P Meyer, Jianing Ma, Guy Brock, et al.
American Journal of Medical Genetics. Part A
|
June 26, 2010
Newborn and carrier screening for spinal muscular atrophy
Thomas W Prior, Pamela J Snyder, Britton D Rink, et al.
Page
of 3