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Showing 235 - 247 of 296

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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

Jonàs Juan-Mateu, Lidia González-Quereda,  [ ... ], Pia Gallano

Sex-Biased Gene Expression during Head Development in a Sexually Dimorphic Stalk-Eyed Fly

Gerald S. Wilkinson, Philip M. Johns, Jackie D. Metheny, Richard H. Baker

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

Elisa Grillo, Caterina Lo Rizzo,  [ ... ], Alessandra Renieri

From Principle to Practice: Bridging the Gap in Patient Profiling

Jonathan H. Foley, Thomas Orfeo,  [ ... ], Kathleen E. Brummel-Ziedins

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

Elena Stacy Mazzone, Marika Pane,  [ ... ], Eugenio Mercuri

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva,  [ ... ], Ana María Oller de Ramírez

Amelogenesis Imperfecta in Two Families with Defined AMELX Deletions in ARHGAP6

Jan C.-C. Hu, Hui-Chen Chan,  [ ... ], James P. Simmer

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