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Biblio

4 resultats trouvés

Filtres: Auteur is Barnicoat, Angela [Clear All Filters]

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Blok LSnijders, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ et al.. 2019. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). NATURE COMMUNICATIONS. 10:883.

Blok LSnijders, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ et al.. 2019. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). NATURE COMMUNICATIONS. 10:2079.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, De Burca A et al.. 2020. A clinical scoring system for congenital contractural arachnodactyly. GENETICS IN MEDICINE. 22:124-131.

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Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM et al.. 2014. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. NATURE GENETICS. 46:70+.