检索结果 - David Tegay
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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia 由 Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillén‐Navarro, Claudia M. Haase, Juergen Kohlhase, Dieter Kotzot, Andrew Lane, Min Ae Lee‐Kirsch, Susanne Morlot, Marleen Simon, Elisabeth Steichen‐Gersdorf, David Tegay, Hartmut Peters, Stefan Mundlos, Eva Klopocki
出版 2010Artigo -
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Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study 由 Norma P. Tavakoli, Dorota Gruber, Niki Armstrong, Wendy K. Chung, Breanne Maloney, Sunju Park, Julia Wynn, Carrie Koval‐Burt, Lorraine Verdade, David Tegay, Lilian L. Cohen, Natasha Shapiro, Annie Kennedy, Garey Noritz, Emma Ciafaloni, Barry Weinberger, Marty Ellington, Charles L. Schleien, Regina Spinazzola, Sunil K. Sood, Amy Brower, Michele A. Lloyd-Puryear, Michele Caggana
出版 2023Artigo
相关主题
Biology
Copy-number variation
Gene
Gene duplication
Genetics
Genome
Medicine
Mutation
Alu element
Anatomy
Autism
Autism spectrum disorder
Chromosome
Cleidocranial Dysplasia
Comparative genomic hybridization
Developmental disorder
Duchenne muscular dystrophy
Dysplasia
Endocrinology
Exon
Fluorescence in situ hybridization
Human genome
Immunology
In situ hybridisation
Internal medicine
Multiplex ligation-dependent probe amplification
Muscular dystrophy
Newborn screening
Pathogenesis
Pediatrics