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	1301.	A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature. [electronic resource] by Seidel, Jörg Heller, Anita Senger, Gabriele Starke, Heike Chudoba, Ilse Kelbova, Christina Tönnies, Holger Neitzel, Heidemarie Haase, Claudia Beensen, Volkmar Zintl, Felix Claussen, Uwe Liehr, Thomas Producer: 20040220 In: European journal of pediatrics vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1302.	Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? [electronic resource] by Christensen, B Blaas, H G Isaksen, C V Roald, B Orstavik, K H Producer: 20000519 In: American journal of medical genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1303.	A novel mutation and novel features in Nijmegen breakage syndrome. [electronic resource] by Maraschio, P Danesino, C Antoccia, A Ricordy, R Tanzarella, C Varon, R Reis, A Besana, D Guala, A Tiepolo, L Producer: 20010531 In: Journal of medical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1304.	Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. [electronic resource] by Frank, Valeska Ortiz Brüchle, Nadina Mager, Silke Frints, Susanna G M Bohring, Axel du Bois, Gabriele Debatin, Irmgard Seidel, Heide Senderek, Jan Besbas, Nesrin Todt, Unda Kubisch, Christian Grimm, Tiemo Teksen, Fulya Balci, Sevim Zerres, Klaus Bergmann, Carsten Producer: 20070529 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1305.	Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly. [electronic resource] by Li, Hui Wang, Cheng-Ye Wang, Jia-Xin Wu, Gui-Sheng Yu, Ping Yan, Xiao-Yi Chen, Yong-Gang Zhao, Lu-Hang Zhang, Ya-Ping Producer: 20090928 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1306.	Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes. [electronic resource] by Aberg, A Westbom, L Källén, B Producer: 20010517 In: Early human development vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1307.	The role of cell death in limb development of rats manifesting Lx allele on different genetic backgrounds. [electronic resource] by Sedmera, D Novotna, B Bila, V Kren, V Producer: 19990311 In: European journal of morphology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1308.	Brief report: acrocallosal syndrome and autism. [electronic resource] by Steiner, Carlos Eduardo Guerreiro, Marilisa Mantovani Marques-de-Faria, Antonia Paula Producer: 20050419 In: Journal of autism and developmental disorders vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1309.	Bifid epiglottis: syndromic constituent rather than isolated anomaly. [electronic resource] by Tsurumi, Haruko Ito, Masaki Ishikura, Kenji Hataya, Hiroshi Ikeda, Masahiro Honda, Masataka Nishimura, Gen Producer: 20110208 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1310.	A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. [electronic resource] by Colombani, Marina Laurent, Nicole Le Merrer, Martine Delezoide, Anne-Lise Thauvin-Robinet, Christel Huet, Frédéric Sagot, Paul Couvreur, Stéphanie Rousseau, Thierry Robertson, Stephen P Faivre, Laurence Producer: 20070221 In: Prenatal diagnosis vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1311.	Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. [electronic resource] by Baala, Lekbir Audollent, Sophie Martinovic, Jéléna Ozilou, Catherine Babron, Marie-Claude Sivanandamoorthy, Sivanthiny Saunier, Sophie Salomon, Rémi Gonzales, Marie Rattenberry, Eleanor Esculpavit, Chantal Toutain, Annick Moraine, Claude Parent, Philippe Marcorelles, Pascale Dauge, Marie-Christine Roume, Joëlle Le Merrer, Martine Meiner, Vardiella Meir, Karen Menez, Françoise Beaufrère, Anne-Marie Francannet, Christine Tantau, Julia Sinico, Martine Dumez, Yves MacDonald, Fiona Munnich, Arnold Lyonnet, Stanislas Gubler, Marie-Claire Génin, Emmanuelle Johnson, Colin A Vekemans, Michel Encha-Razavi, Férechté Attié-Bitach, Tania Producer: 20070904 In: American journal of human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1312.	Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. [electronic resource] by Lettice, Laura A Hill, Alison E Devenney, Paul S Hill, Robert E Producer: 20080417 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1313.	Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. [electronic resource] by Mirzaa, Ghayda M Conway, Robert L Gripp, Karen W Lerman-Sagie, Tally Siegel, Dawn H deVries, Linda S Lev, Dorit Kramer, Nancy Hopkins, Elizabeth Graham, John M Dobyns, William B Producer: 20120720 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1314.	Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? [electronic resource] by Isidor, Bertrand Le Meur, Guylène Conti, Carole Caldagues, Emmanuelle Lainey, Elodie Launay, Elise Leclair, Marc David Le Francois, Thomas Pichon, Olivier Boisseau, Pierre Migraine, Audrey Keren, Boris Le Caignec, Cédric Crow, Yanick J David, Albert Producer: 20131017 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1315.	GATA6 is a crucial regulator of Shh in the limb bud. [electronic resource] by Kozhemyakina, Elena Ionescu, Andreia Lassar, Andrew B Producer: 20140617 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1316.	IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture. [electronic resource] by Xin, Daisy Christopher, Kasey J Zeng, Lewie Kong, Yong Weatherbee, Scott D Producer: 20170912 In: Development (Cambridge, England) vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1317.	Vietnamese sisters with Grebe syndrome on a TV program in Japan. [electronic resource] by Ishikiriyama, S Producer: 20020402 In: Clinical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1318.	Spectrum of the acrocallosal syndrome. [electronic resource] by Koenig, Rainer Bach, Alexia Woelki, Ulrike Grzeschik, Karl-Heinz Fuchs, Sigrun Producer: 20020802 In: American journal of medical genetics vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1319.	Gli genes and limb development. [electronic resource] by Theil, T Kaesler, S Grotewold, L Böse, J Rüther, U Producer: 19990517 In: Cell and tissue research vol. 296 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1320.	Comparative physical maps of the human and mouse Meckel syndrome critical regions. [electronic resource] by Hentges, Kathryn E Kyttälä, Mira Justice, Monica J Peltonen, Leena Producer: 20041012 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 1610 results.