खोज परिणाम - D H Ledbetter
- प्रदर्शित 1 - 3 परिणाम 3
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1
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts द्वारा Daniel Moreno‐De‐Luca, Stephan Sanders, A. Jeremy Willsey, Jennifer G. Mullé, Jennifer K. Lowe, Daniel H. Geschwind, Matthew W. State, Alastair J. Martin, D H Ledbetter
प्रकाशित 2012Artigo -
2
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability द्वारा Andrés Moreno-De-Luca, S. L. Helmers, Hui Mao, Thomas G. Burns, A. M. A. Melton, Karen Russell Schmidt, Paul M. Fernhoff, D H Ledbetter, Christa Lese Martin
प्रकाशित 2010Artigo -
3
Towards an evidence‐based process for the clinical interpretation of copy number variation द्वारा ER Riggs, DM Church, Karen Hanson, VL Horner, E B Kaminsky, RM Kuhn, KE Wain, E. H. Williams, Swaroop Aradhya, HM Kearney, D H Ledbetter, ST South, EC Thorland, CL Martin
प्रकाशित 2011Revisão
खोज साधन:
संबंधित विषय
Biology
Genetics
Computational biology
Copy-number variation
Gene
Genome
Psychiatry
Artificial intelligence
Astrophysics
Autism
Behavioral medicine
Bioinformatics
Cerebral palsy
Computer science
Consistency (knowledge bases)
DNA microarray
Data science
Gene expression
Intellectual disability
Internal medicine
Law
Medical genetics
Medicine
Microbiology
Microcephaly
Pathogenicity
Pediatrics
Physical medicine and rehabilitation
Physics
Political science