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Showing 118 - 130 of 179

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Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

Monique Albersen, Marjolein Bosma,  [ ... ], Nanda M. Verhoeven-Duif

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

Anna Duarri, Esther A. R. Nibbeling,  [ ... ], Dineke S. Verbeek

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba,  [ ... ], Marcelo A. Kauffman

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

Gabriel A. Lazarin, Felicia Hawthorne,  [ ... ], Imran S. Haque

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