Biblio

12 resultats trouvés
Filtres: Auteur is Giuliano, Fabienne  [Clear All Filters]
A
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N et al..  2019.  Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017). GENETICS IN MEDICINE. 21:1894-1895.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N et al..  2018.  Arterial tortuosity syndrome: 40 new families and literature review. GENETICS IN MEDICINE. 20:1236-1245.
B
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N et al..  2015.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. EUROPEAN JOURNAL OF HUMAN GENETICS. 23:292-301.
C
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F et al..  2021.  Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. CLINICAL GENETICS. 99:650-661.
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F et al..  Submitted.  Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. CLINICAL GENETICS.
M
Jourdain A-S, Petit F, Odou M-F, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A et al..  2020.  Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations. HUMAN MUTATION. 41:222-239.
Vuillaunne M-L, Moizard M-P, , Cottereau E, Vonwill S, Alessandri J-L, Busa T, Colin E, Gerard M, Giuliano F et al..  2018.  Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. HUMAN MUTATION. 39:790-805.
N
Demurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide A-L, Quelin C, Manouvrier S, Baujat G, Fradin M et al..  2015.  New insights into genotype-phenotype correlation for GLI3 mutations. EUROPEAN JOURNAL OF HUMAN GENETICS. 23:92-102.
O
Moutton S, Fergelot P, Naudion S, Cordier M-P, Sole G, Guerineau E, Hubert C, Rooryck C, Vuillaume M-L, Houcinat N et al..  2016.  Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. JOURNAL OF HUMAN GENETICS. 61:693-699.
P
Juven A, Nambot S, Piton A, Jean-Marcais N, Masurel A, Callier P, Marle N, Mosca-Boidron A-L, Kuentz P, Philippe C et al..  2020.  Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:1044-1055.
T
Barat-Houari M, Dumont B, Fabre A, Them FTM, Alembik Y, Alessandri J-L, Amiel J, Audebert S, Baumann-Morel C, Blanchet P et al..  2016.  The expanding spectrum of COL2A1 gene variants IN136 patients with a skeletal dysplasia phenotype. EUROPEAN JOURNAL OF HUMAN GENETICS. 24:992-1000.
U
Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D et al..  Submitted.  Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt. EUROPEAN JOURNAL OF HUMAN GENETICS.