scholarly journals Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing

2021 ◽  
Vol 23 (1) ◽  
pp. 103-110
Author(s):  
Thomas W. Prior ◽  
Pinar Bayrak-Toydemir ◽  
Ty C. Lynnes ◽  
Rong Mao ◽  
James D. Metcalf ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Spinal Muscular Atrophy ◽  
Reference Materials ◽  
Muscular Atrophy

scholarly journals Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles

2019 ◽  
Vol 21 (6) ◽  
pp. 1034-1052 ◽  
Author(s):  
Andrea Gaedigk ◽  
Amy Turner ◽  
Robin E. Everts ◽  
Stuart A. Scott ◽  
Praful Aggarwal ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reference Materials

scholarly journals Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

2002 ◽  
Vol 4 (1) ◽  
pp. 53-58 ◽  
Author(s):  
Shuji Ogino ◽  
Debra G.B. Leonard ◽  
Hanna Rennert ◽  
Robert B. Wilson
Keyword(s):  
Genetic Testing ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Medical Center ◽  
Academic Medical Center ◽  
Academic Medical

scholarly journals Spinal muscular atrophy caused by a novel Alu ‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

2020 ◽  
Vol 8 (7) ◽  
Author(s):  
Ivana Jedličková ◽  
Anna Přistoupilová ◽  
Lenka Nosková ◽  
Filip Majer ◽  
Viktor Stránecký ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships

2016 ◽  
Vol 36 (6) ◽  
pp. 513-520 ◽  
Author(s):  
Lisa V. Kalman ◽  
Vivekananda Datta ◽  
Mickey Williams ◽  
Justin M. Zook ◽  
Marc L. Salit ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reference Materials ◽  
Public Partnerships

scholarly journals Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

2009 ◽  
Vol 11 (6) ◽  
pp. 553-561 ◽  
Author(s):  
Shannon D. Barker ◽  
Sherri Bale ◽  
Jessica Booker ◽  
Arlene Buller ◽  
Soma Das ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reference Materials ◽  
Brca1 And Brca2

Comparison of PCR-RFLP with Allele-Specific PCR in Genetic Testing for Spinal Muscular Atrophy

2003 ◽  
Vol 7 (4) ◽  
pp. 277-281 ◽  
Author(s):  
Ruliang Xu ◽  
Shuji Ogino ◽  
Va Lip ◽  
Hong Fang ◽  
Bai-Lin Wu
Keyword(s):  
Genetic Testing ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Allele Specific Pcr
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