Biblio

7 resultats trouvés
Filtres: Auteur is Johnson, Diana  [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.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM et al..  2019.  The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 181:557-564.
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Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel A-L, Sorlin A et al..  2020.  Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. CLINICAL GENETICS. 98:19-31.
Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel A-L, Sorlin A et al..  2020.  Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. CLINICAL GENETICS. 98:19-31.
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Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Heron D, Nougues M-C et al..  2019.  The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018). GENETICS IN MEDICINE. 21:1667.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Heron D, Nougues M-C et al..  2019.  The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. GENETICS IN MEDICINE. 21:1308-1318.