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	1381.	BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. [electronic resource] by Deveault, Catherine Billingsley, Gail Duncan, Jacque L Bin, Jenea Theal, Rebecca Vincent, Ajoy Fieggen, Karen J Gerth, Christina Noordeh, Nima Traboulsi, Elias I Fishman, Gerald A Chitayat, David Knueppel, Tanja Millán, José M Munier, Francis L Kennedy, Debra Jacobson, Samuel G Innes, A Micheil Mitchell, Grant A Boycott, Kym Héon, Elise Producer: 20110919 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1382.	Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. [electronic resource] by Petry, Patrícia Polli, Janaina B Mattos, Vinícius F Rosa, Rosana C M Zen, Paulo R G Graziadio, Carla Paskulin, Giorgio A Rosa, Rafael F M Producer: 20160415 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)
	1383.	Analysis of limb patterning in BMP-7-deficient mice. [electronic resource] by Hofmann, C Luo, G Balling, R Karsenty, G Producer: 19970211 In: Developmental genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1384.	Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. [electronic resource] by Slavotinek, A M Searby, C Al-Gazali, L Hennekam, R C M Schrander-Stumpel, C Orcana-Losa, M Pardo-Reoyo, S Cantani, A Kumar, D Capellini, Q Neri, G Zackai, E Biesecker, L G Producer: 20020813 In: Human genetics vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1385.	The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. [electronic resource] by Debeer, P Schoenmakers, E F P M Twal, W O Argraves, W S De Smet, L Fryns, J P Van De Ven, W J M Producer: 20020305 In: Journal of medical genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1386.	[Progress on polydactyly character of vertebrate]. [electronic resource] by Huang, Yan-Qun Deng, Xue-Mei Li, Ning Qiu, Xiang-Pin Producer: 20060424 In: Yi chuan = Hereditas vol. 26 Availability: No items available. Save to lists Add to cart (remove)
	1387.	Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. [electronic resource] by Wang, Zhigang Wang, Jian Li, Yuchan Geng, Juan Fu, Qihua Xu, Yunlan Shen, Yiping Producer: 20150115 In: Clinica chimica acta; international journal of clinical chemistry vol. 433 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1388.	Compound heterozygous alterations in intraflagellar transport protein [electronic resource] by Johnston, Jennifer J Lee, Chanjae Wentzensen, Ingrid M Parisi, Melissa A Crenshaw, Molly M Sapp, Julie C Gross, Jeffrey M Wallingford, John B Biesecker, Leslie G Producer: 20171117 In: Cold Spring Harbor molecular case studies vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1389.	Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly. [electronic resource] by Chen, X Yuan, L Xu, H Hu, P Yang, Y Guo, Y Guo, Z Deng, H Producer: 20200715 In: Current molecular medicine vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1390.	CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage. [electronic resource] by Kodama, Kazuki Takahashi, Hiroaki Oiji, Nobuyasu Nakano, Kenta Okamura, Tadashi Niimi, Kimie Takahashi, Eiki Guo, Long Ikegawa, Shiro Furuichi, Tatsuya Producer: 20210719 In: FEBS open bio vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1391.	Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. [electronic resource] by Young, T L Woods, M O Parfrey, P S Green, J S O'Leary, E Hefferton, D Davidson, W S Producer: 19981026 In: American journal of medical genetics vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1392.	[Greig cephalopolysyndactyly syndrome]. [electronic resource] by Satokata, I Producer: 20010125 In: Ryoikibetsu shokogun shirizu no. 30 Pt 5 Availability: No items available. Save to lists Add to cart (remove)
	1393.	Pseudotrisomy 13 and autosomal recessive holoprosencephaly. [electronic resource] by Seller, M J Chitty, L S Dunbar, H Producer: 19940304 In: Journal of medical genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1394.	[The hand: embryology and main malformative mechanisms]. [electronic resource] by Perrin, J Geoffroy-Siraudin, C Metzler-Guillemain, C Producer: 20090320 In: Chirurgie de la main vol. 27 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1395.	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. [electronic resource] by Koolen, David A Herbergs, Jos Veltman, Joris A Pfundt, Rolph van Bokhoven, Hans Stroink, Hans Sistermans, Erik A Brunner, Han G Geurts van Kessel, Ad de Vries, Bert B A Producer: 20061006 In: Journal of human genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1396.	Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. [electronic resource] by Sergi, C Adam, S Kahl, P Otto, H F Producer: 20001108 In: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1397.	Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. [electronic resource] by Cheng, Baowen Dong, Yongli He, Li Tang, Wenru Yu, Haijing Lu, Jing Xu, Lin Zheng, Bingrong Li, Kaiyuan Xiao, Chunjie Producer: 20060921 In: Journal of clinical laboratory analysis vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1398.	Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. [electronic resource] by Poretti, Andrea Vitiello, Giuseppina Hennekam, Raoul C M Arrigoni, Filippo Bertini, Enrico Borgatti, Renato Brancati, Francesco D'Arrigo, Stefano Faravelli, Francesca Giordano, Lucio Huisman, Thierry A G M Iannicelli, Miriam Kluger, Gerhard Kyllerman, Marten Landgren, Magnus Lees, Melissa M Pinelli, Lorenzo Romaniello, Romina Scheer, Ianina Schwarz, Christoph E Spiegel, Ronen Tibussek, Daniel Valente, Enza Maria Boltshauser, Eugen Producer: 20120719 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1399.	Advances in the molecular genetics of non-syndromic polydactyly. [electronic resource] by Deng, Hao Tan, Ting Yuan, Lamei Producer: 20160311 In: Expert reviews in molecular medicine vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1400.	Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. [electronic resource] by Umair, Muhammad Seidel, Heide Ahmed, Ishtiaq Ullah, Asmat Haack, Tobias B Alhaddad, Bader Jan, Abid Rafique, Afzal Strom, Tim M Ahmad, Farooq Meitinger, Thomas Ahmad, Wasim Producer: 20180802 In: Journal of genetics vol. 96 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.