Результати пошуку - Julia McEachern
- Показ 1 - 2 результатів із 2
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1
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease за авторством Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista Bluske, Nicole Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan R. Lajoie, Amirah Khouzam, Shimul Chowdhury, John W. Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael A. Eberle, R. Tanner Hagelstrom, David Bentley, Denise Perry, Ryan J. Taft
Опубліковано 2018Artigo -
2
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico за авторством Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye, Miguel Del Campo, Carolina I. Galarreta, Erin Thorpe, Julia McEachern, Keisha Robinson, Andrew M. Gross, Maren Bennett, Krista Bluske, Carolyn M. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Amanda Clause, Alison J. Coffey, María Laura Cremona, Vlad Gainullin, R. Tanner Hagelstrom, Alka Malhotra, M. Naresh Kumar. K. Rajan, Revathi Rajkumar, Sarah Schmidt, Subramanian S. Ajay, Vani Rajan, Denise Perry, John W. Belmont, David Bentley, Marilyn C. Jones, Ryan J. Taft
Опубліковано 2019Artigo
Інструменти для пошуку:
Пов'язані теми
Biology
Gene
Genetics
Medicine
Bioinformatics
Breakpoint
Chromosome
Computational biology
Copy number analysis
Copy-number variation
Exome sequencing
Genetic counseling
Genetic testing
Genome
Genotype
Internal medicine
Karyotype
Medical diagnosis
Mutation
Pathology
Pediatrics
Phenotype
Proband
SNP array
Single-nucleotide polymorphism
Uniparental disomy
Whole genome sequencing