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Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
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Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants

Guilhem, Alexandre ; Dupuis-Girod, Sophie ; Espitia, Olivier ; Rivière, Sophie ; Seguier, Julie ; Kerjouan, Mallorie ; Lavigne, Christian ; Maillard, Hélène ; Magro, Pascal ; Alric, Laurent ; Lipsker, Dan ; Parrot, Antoine ; Leguy, Vanessa ; Vanlemmens, Claire ; Guibaud, Laurent ; Vikkula, Miikka ; Eyries, Melanie ; Valette, Pierre-Jean ; Giraud, Sophie

Journal of medical genetics, 2023-09, Vol.60 (9), p.905-909 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

Bubien, Virginie ; Bonnet, Françoise ; Brouste, Veronique ; Hoppe, Stéphanie ; Barouk-Simonet, Emmanuelle ; David, Albert ; Edery, Patrick ; Bottani, Armand ; Layet, Valérie ; Caron, Olivier ; Gilbert-Dussardier, Brigitte ; Delnatte, Capucine ; Dugast, Catherine ; Fricker, Jean-Pierre ; Bonneau, Dominique ; Sevenet, Nicolas ; Longy, Michel ; Caux, Frédéric ; Abramowicz, Marc ; Bessis, Didier ; Bieth, Eric ; Bérard, Valérie Bonadonaon ; Bonnetblanc, Jean-Marie ; Demange, Liliane ; Feillet, François ; Frebourg, Thierry ; Giraud, Sophie ; Giurgea, Irina ; Heron, Delphine ; Holder, Muriel ; Journel, Hubert ; Julia, Sophie ; Kacem, Maha ; Lejeune, Sophie ; Leprat, Frédéric ; Leroux, Dominique ; Lok, Catherine ; Lortholary, Alain ; Lyonnet, Stanislas ; Margueritte, Geneviève ; Mauillon, Jacques ; Mazereeuw-Hautier, Juliette ; Odent, Sylvie ; Penet, Clotilde ; Philippe, Anne ; Plauchu, Henri ; Plessismenceau, Ghislaine ; Plouvieron, Emmanuel ; Richard, Marie-Aleth ; Saadi, Abdelkrim ; Saurin, Jean-Christophe ; Tinat, Julie ; Vabres, Pierre ; Van Maldergemteil, Lionel ; Vennin, Philippe ; Weiller, Pierre-Jean

Journal of medical genetics, 2013-04, Vol.50 (4), p.255-263 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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3
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

Ben Aim, Laurene ; Maher, Eamonn R ; Cascon, Alberto ; Barlier, Anne ; Giraud, Sophie ; Ercolino, Tonino ; Pigny, Pascal ; Clifton-Bligh, Roderick J ; Mirebeau-Prunier, Delphine ; Mohamed, Amira ; Favier, Judith ; Gimenez-Roqueplo, Anne-Paule ; Schiavi, Francesca ; Toledo, Rodrigo A ; Dahia, Patricia L ; Robledo, Mercedes ; Bayley, Jean Pierre ; Burnichon, Nelly

Journal of medical genetics, 2022-08, Vol.59 (8), p.785-792 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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