genotype

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Sylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Nathalie Collot, Catherine Faucon, Florence Dastot, Bruno Copin, Annick Clement, Marcel Filoche, André Coste, Serge Amselem, Estelle Escudier, Jean-Francois Papon, Bruno Louis

Journal of Medical Genetics Nov 2019, jmedgenet-2019-106424; DOI: 10.1136/jmedgenet-2019-106424
Genetic Severity Score predicts clinical phenotype in NF2
Dorothy Halliday, Beatrice Emmanouil, Pieter Pretorius, Samuel MacKeith, Sally Painter, Helen Tomkins, D Gareth Evans, Allyson Parry

Journal of Medical Genetics Oct 2017, 54 (10) 657-664; DOI: 10.1136/jmedgenet-2017-104519

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genotype