Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "VAN GENDEREN, Maria M"
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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
KRUIJT, Charlotte C; GRADSTEIN, Libe; BERGEN, Arthur A ...(Investigative Ophthalmology & Visual Science. vol. 63, n° 1, pp. 19, 2022-01-03)Article de revueLibre acceso -
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
KUHT, Helen J; MACONACHIE, Gail D E; HAN, Jinu ...(vol. 129, n° 6, pp. 708-718, 2022-06-01)Article de revueLibre acceso -
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
LACOMBE, Didier; BLOCH-ZUPAN, Agnès; BREDRUP, Cecilie ...
(Journal of Medical Genetics. vol. 61, n° 6, pp. 503-519, 2024-05-21)Article de revueLibre acceso