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Material Type: 期刊文獻
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El vocabulario de la Revolución FrancesaHirschsprung, NathalieHistoria crítica (Bogotá, Colombia), 1989, Vol.2 (2), p.49-65 [同儕審閱期刊]可取得全文 |
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2 |
Material Type: 期刊文獻
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Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutationsIsidor, Bertrand ; Lefebvre, Tiphaine ; Le Vaillant, Claudine ; Caillaud, Gaëlle ; Faivre, Laurence ; Jossic, Frédéric ; Joubert, Madeleine ; Winer, Norbert ; Le Caignec, Cédric ; Borck, Guntram ; Pelet, Anna ; Amiel, Jeanne ; Toutain, Annick ; Ronce, Nathalie ; Raynaud, Martine ; Verloes, Alain ; David, AlbertAmerican journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1821-1825 [同儕審閱期刊]可取得全文 |
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3 |
Material Type: 期刊文獻
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Maternal mental disorders and risk of pathological abdominal conditions in childrenLe-Nguyen, Annie ; Piché, Nelson ; Lee, Ga Eun ; Auger, NathalieArchives of women's mental health, 2021-12, Vol.24 (6), p.925-932 [同儕審閱期刊]可取得全文 |
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4 |
Material Type: 期刊文獻
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ZFHX1B mutations in patients with Mowat-Wilson syndromeDastot-Le Moal, Florence ; Wilson, Meredith ; Mowat, David ; Collot, Nathalie ; Niel, Florence ; Goossens, MichelHuman mutation, 2007-04, Vol.28 (4), p.313-321 [同儕審閱期刊]可取得全文 |
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Material Type: 期刊文獻
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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4Bondurand, Nadege ; Dastot-Le Moal, Florence ; Stanchina, Laure ; Collot, Nathalie ; Baral, Viviane ; Marlin, Sandrine ; Attie-Bitach, Tania ; Giurgea, Irina ; Skopinski, Laurent ; Reardon, William ; Toutain, Annick ; Sarda, Pierre ; Echaieb, Anis ; Lackmy-Port-Lis, Marilyn ; Touraine, Renaud ; Amiel, Jeanne ; Goossens, Michel ; Pingault, VeroniqueAmerican journal of human genetics, 2007-12, Vol.81 (6), p.1169-1185 [同儕審閱期刊]可取得全文 |
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6 |
Material Type: 期刊文獻
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The Emerging Role of Nerves and Glia in Colorectal CancerSchonkeren, Simone L ; Thijssen, Meike S ; Vaes, Nathalie ; Boesmans, Werend ; Melotte, VeerleCancers, 2021-01, Vol.13 (1), p.152 [同儕審閱期刊]可取得全文 |
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7 |
Material Type: 期刊文獻
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Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammationCrahes, Marie ; Saugier-Veber, Pascale ; Patrier, Sophie ; Aziz, Moutaz ; Pirot, Nathalie ; Brasseur-Daudruy, Marie ; Layet, Valérie ; Frébourg, Thierry ; Laquerrière, AnnieEuropean journal of medical genetics, 2013-07, Vol.56 (7), p.365-370 [同儕審閱期刊]可取得全文 |
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8 |
Material Type: 期刊文獻
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C620R mutation of the murine ret proto‐oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotesYin, Luo ; Puliti, Aldamaria ; Bonora, Elena ; Evangelisti, Cecilia ; Conti, Valerio ; Tong, Wei‐Min ; Medard, Jean‐Jacques ; Lavoué, Marie‐France ; Forey, Nathalie ; Wang, Lily C. ; Manié, Serge ; Morel, Gérard ; Raccurt, Mireille ; Wang, Zhao‐Qi ; Romeo, GiovanniInternational journal of cancer, 2007-07, Vol.121 (2), p.292-300 [同儕審閱期刊]可取得全文 |
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9 |
Material Type: 期刊文獻
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Case of Waardenburg Shah syndrome in a family with review of literatureChandra Mohan, Setty.L.N.Journal of otology (Beijing), 2018-09, Vol.13 (3), p.105-110 [同儕審閱期刊]可取得全文 |
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10 |
Material Type: 期刊文獻
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Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion MutationsHeide, Solveig ; Masliah-Planchon, Julien ; Isidor, Bertrand ; Guimier, Anne ; Bodet, Damien ; Coze, Carole ; Deville, Anne ; Thebault, Estelle ; Pasquier, Corinne Jeanne ; Cassagnau, Elisabeth ; Pierron, Gaelle ; Clément, Nathalie ; Schleiermacher, Gudrun ; Amiel, Jeanne ; Delattre, Olivier ; Peuchmaur, Michel ; Bourdeaut, FranckPediatric blood & cancer, 2016-01, Vol.63 (1), p.71-77 [同儕審閱期刊]可取得全文 |