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	1.	Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. [electronic resource] by Chassaing, N Causse, A Vigouroux, A Delahaye, A Alessandri, J-L Boespflug-Tanguy, O Boute-Benejean, O Dollfus, H Duban-Bedu, B Gilbert-Dussardier, B Giuliano, F Gonzales, M Holder-Espinasse, M Isidor, B Jacquemont, M-L Lacombe, D Martin-Coignard, D Mathieu-Dramard, M Odent, S Picone, O Pinson, L Quelin, C Sigaudy, S Toutain, A Thauvin-Robinet, C Kaplan, Josseline Calvas, Patrick Producer: 20150525 In: Clinical genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. [electronic resource] by Lavoine, N Colas, C Muleris, M Bodo, S Duval, A Entz-Werle, N Coulet, F Cabaret, O Andreiuolo, F Charpy, C Sebille, G Wang, Q Lejeune, S Buisine, M P Leroux, D Couillault, G Leverger, G Fricker, J P Guimbaud, R Mathieu-Dramard, M Jedraszak, G Cohen-Hagenauer, O Guerrini-Rousseau, L Bourdeaut, F Grill, J Caron, O Baert-Dusermont, S Tinat, J Bougeard, G Frébourg, T Brugières, L Producer: 20160801 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. [electronic resource] by Molin, Anna-Maja Andrieux, J Koolen, D A Malan, V Carella, M Colleaux, L Cormier-Daire, V David, A de Leeuw, N Delobel, B Duban-Bedu, B Fischetto, R Flinter, F Kjaergaard, S Kok, F Krepischi, A C Le Caignec, C Ogilvie, C Mackie Maia, S Mathieu-Dramard, M Munnich, A Palumbo, O Papadia, F Pfundt, R Reardon, W Receveur, A Rio, M Ronsbro Darling, L Rosenberg, C Sá, J Vallee, L Vincent-Delorme, C Zelante, L Bondeson, M-L Annerén, G Producer: 20120511 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. [electronic resource] by Baer, S Afenjar, A Smol, T Piton, A Gérard, B Alembik, Y Bienvenu, T Boursier, G Boute, O Colson, C Cordier, M-P Cormier-Daire, V Delobel, B Doco-Fenzy, M Duban-Bedu, B Fradin, M Geneviève, D Goldenberg, A Grelet, M Haye, D Heron, D Isidor, B Keren, B Lacombe, D Lèbre, A-S Lesca, G Masurel, A Mathieu-Dramard, M Nava, C Pasquier, L Petit, A Philip, N Piard, J Rondeau, S Saugier-Veber, P Sukno, S Thevenon, J Van-Gils, J Vincent-Delorme, C Willems, M Schaefer, E Morin, G Producer: 20191024 In: Clinical genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. [electronic resource] by Avila, M Dyment, D A Sagen, J V St-Onge, J Moog, U Chung, B H Y Mo, S Mansour, S Albanese, A Garcia, S Martin, D O Lopez, A A Claudi, T König, R White, S M Sawyer, S L Bernstein, J A Slattery, L Jobling, R K Yoon, G Curry, C J Merrer, M L Luyer, B L Héron, D Mathieu-Dramard, M Bitoun, P Odent, S Amiel, J Kuentz, P Thevenon, J Laville, M Reznik, Y Fagour, C Nunes, M-L Delesalle, D Manouvrier, S Lascols, O Huet, F Binquet, C Faivre, L Rivière, J-B Vigouroux, C Njølstad, P R Innes, A M Thauvin-Robinet, C Publication details: Clinical genetics Apr 2016 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. [electronic resource] by Walters, R G Jacquemont, S Valsesia, A de Smith, A J Martinet, D Andersson, J Falchi, M Chen, F Andrieux, J Lobbens, S Delobel, B Stutzmann, F El-Sayed Moustafa, J S Chèvre, J-C Lecoeur, C Vatin, V Bouquillon, S Buxton, J L Boute, O Holder-Espinasse, M Cuisset, J-M Lemaitre, M-P Ambresin, A-E Brioschi, A Gaillard, M Giusti, V Fellmann, F Ferrarini, A Hadjikhani, N Campion, D Guilmatre, A Goldenberg, A Calmels, N Mandel, J-L Le Caignec, C David, A Isidor, B Cordier, M-P Dupuis-Girod, S Labalme, A Sanlaville, D Béri-Dexheimer, M Jonveaux, P Leheup, B Ounap, K Bochukova, E G Henning, E Keogh, J Ellis, R J Macdermot, K D van Haelst, M M Vincent-Delorme, C Plessis, G Touraine, R Philippe, A Malan, V Mathieu-Dramard, M Chiesa, J Blaumeiser, B Kooy, R F Caiazzo, R Pigeyre, M Balkau, B Sladek, R Bergmann, S Mooser, V Waterworth, D Reymond, A Vollenweider, P Waeber, G Kurg, A Palta, P Esko, T Metspalu, A Nelis, M Elliott, P Hartikainen, A-L McCarthy, M I Peltonen, L Carlsson, L Jacobson, P Sjöström, L Huang, N Hurles, M E O'Rahilly, S Farooqi, I S Männik, K Jarvelin, M-R Pattou, F Meyre, D Walley, A J Coin, L J M Blakemore, A I F Froguel, P Beckmann, J S Producer: 20100312 In: Nature vol. 463 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)