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Methods in Molecular Biology (Clifton, N.J.)
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June 24, 2024
Cancer Sample Analysis Utilizing Single-Nucleotide Polymorphism Array and Array Comparative Genomic Hybridization
Benjamin Kang, Hong Xiao, Todd Ackley, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2011
Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
Marc Nelson, Shane Quinonez, Todd Ackley, et al.
Clinical Case Reports
|
July 18, 2015
Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
Marwan K Tayeh, Tracy Rocco, Todd Ackley, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
Jirair K Bedoyan, Marci M Lesperance, Todd Ackley, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2012
Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings
Shane C Quinonez, Peter Hedera, Mason Barr, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Duplication 16p11.2 in a child with infantile seizure disorder
Jirair K Bedoyan, Ravinesh A Kumar, Jyotsna Sudi, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication
Christopher N Vlangos, Amanda Siuniak, Todd Ackley, et al.
Journal of Pediatric Urology
|
April 1, 2011
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
Wisam Al Badr, Suha Al Bader, Edgar Otto, et al.
Congenital Heart Disease
|
April 12, 2014
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development
Thor Thorsson, William W Russell, Nour El-Kashlan, et al.
Human Mutation
|
August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Erin R Riggs, Tristan Nelson, Andrew Merz, et al.
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Methods in Molecular Biology (Clifton, N.J.)
|
June 24, 2024
Cancer Sample Analysis Utilizing Single-Nucleotide Polymorphism Array and Array Comparative Genomic Hybridization
Benjamin Kang, Hong Xiao, Todd Ackley, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2011
Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
Marc Nelson, Shane Quinonez, Todd Ackley, et al.
Clinical Case Reports
|
July 18, 2015
Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
Marwan K Tayeh, Tracy Rocco, Todd Ackley, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
Jirair K Bedoyan, Marci M Lesperance, Todd Ackley, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2012
Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings
Shane C Quinonez, Peter Hedera, Mason Barr, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2010
Duplication 16p11.2 in a child with infantile seizure disorder
Jirair K Bedoyan, Ravinesh A Kumar, Jyotsna Sudi, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication
Christopher N Vlangos, Amanda Siuniak, Todd Ackley, et al.
Journal of Pediatric Urology
|
April 1, 2011
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
Wisam Al Badr, Suha Al Bader, Edgar Otto, et al.
Congenital Heart Disease
|
April 12, 2014
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development
Thor Thorsson, William W Russell, Nour El-Kashlan, et al.
Human Mutation
|
August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Erin R Riggs, Tristan Nelson, Andrew Merz, et al.
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of 2