Suchergebnisse - Srirangan Sampath
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Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function von Jennifer B. Phillips, Bernardo Blanco‐Sánchez, Jennifer J Lentz, Alexandra Tallafuß, Kornnika Khanobdee, Srirangan Sampath, Zachary G. Jacobs, Philip F. Han, Monalisa Mishra, Tom A. Titus, David S. Williams, Bronya J.B. Keats, Philip Washbourne, Monte Westerfield
Veröffentlicht 2011Artigo -
2
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases von Justin Pham, Chad A. Shaw, Amber N. Pursley, Patricia Hixson, Srirangan Sampath, Erin K. Roney, Tomasz Gambin, Sung‐Hae Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, James R. Lupski, Paweł Stankiewicz, Ankita Patel, Sau-Wai Cheung
Veröffentlicht 2014Artigo -
3
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions von Christian P. Schaaf, Philip M. Boone, Srirangan Sampath, Charles A. Williams, Patricia I. Bader, Jennifer M. Mueller, Oleg A. Shchelochkov, Chester Brown, Heather P. Crawford, James A. Phalen, Nicole Tartaglia, Patricia Evans, William M. Campbell, Anne Chun‐Hui Tsai, Lea Parsley, Stephanie W Grayson, Angela E. Scheuerle, Carol D Luzzi, Sandra K Thomas, Patricia A. Eng, Sung-Hae L. Kang, Ankita Patel, Paweł Stankiewicz, Sau Wai Cheung
Veröffentlicht 2012Artigo -
4
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats von Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, J. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann Martin, Suneeta Madan‐Khetarpal, Jacqueline M. Hoover, Līvija Medne, Carsten G. Bönnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie Banks, David B. Flannery, Carolyn Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean P. Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer
Veröffentlicht 2011Artigo
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Ähnliche Schlagworte
Biology
Gene
Genetics
Phenotype
Exon
Genome
Hypotonia
Medicine
Autism
Autism spectrum disorder
Copy-number variation
Environmental health
Expressivity
Gene duplication
Gene family
Genetic recombination
Intellectual disability
Missense mutation
Neuroscience
Non-allelic homologous recombination
Nonsense mutation
Penetrance
Pharmacology
Population
Psychiatry
Ptosis
Recombination
Retina
Retinitis pigmentosa
Segmental duplication