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	4921.	The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene. [electronic resource] by Nicole, S White, P S Topaloglu, H Beigthon, P Salih, M Hentati, F Fontaine, B Producer: 19990923 In: Human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4922.	New insights in congenital bowing of the femora. [electronic resource] by Cormier-Daire, V Geneviève, D Munnich, A Le Merrer, M Producer: 20050308 In: Clinical genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4923.	[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation]. [electronic resource] by Do Ngoc Thanh, Claire Barois, Annie Estournet-Mathiaud, Brigitte Bataille, Jacques Ioos, Christine Producer: 20080626 In: Bulletin de l'Academie nationale de medecine vol. 191 Availability: No items available. Save to lists Add to cart (remove)
	4924.	Trilogy of gastrointestinal atresias: a case report and review of the literature. [electronic resource] by Kwok, Iris H Y Grant, Hugh W Menon, Prema Producer: 20120514 In: Journal of pediatric surgery vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4925.	A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. [electronic resource] by Waryah, A M Shahzad, M Shaikh, H Sheikh, S A Channa, N A Hufnagel, R B Makhdoom, A Riazuddin, S Ahmed, Z M Producer: 20170522 In: Clinical genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4926.	Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes. [electronic resource] by Shukla, Siddharth Parker, Roy Producer: 20170821 In: Trends in molecular medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4927.	DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. [electronic resource] by Logan, Clare V Murray, Jennie E Parry, David A Robertson, Andrea Bellelli, Roberto Tarnauskaitė, Žygimantė Challis, Rachel Cleal, Louise Borel, Valerie Fluteau, Adeline Santoyo-Lopez, Javier Aitman, Tim Barroso, Inês Basel, Donald Bicknell, Louise S Goel, Himanshu Hu, Hao Huff, Chad Hutchison, Michele Joyce, Caroline Knox, Rachel Lacroix, Amy E Langlois, Sylvie McCandless, Shawn McCarrier, Julie Metcalfe, Kay A Morrissey, Rose Murphy, Nuala Netchine, Irène O'Connell, Susan M Olney, Ann Haskins Paria, Nandina Rosenfeld, Jill A Sherlock, Mark Syverson, Erin White, Perrin C Wise, Carol Yu, Yao Zacharin, Margaret Banerjee, Indraneel Reijns, Martin Bober, Michael B Semple, Robert K Boulton, Simon J Rios, Jonathan J Jackson, Andrew P Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4928.	Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. [electronic resource] by Bayoumi, R Saar, K Lee, Y A Nürnberg, G Reis, A Nur-E-Kamal, M Al-Gazali, L I Producer: 20011011 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)
	4929.	The biochemical characterization of aggrecan from normal and tibial-dyschondroplastic chicken growth-plate cartilage. [electronic resource] by Tselepis, C Kwan, A P Thornton, D Sheehan, J Producer: 20010125 In: The Biochemical journal vol. 351 Pt 2 Availability: No items available. Save to lists Add to cart (remove)
	4930.	[Histological function of PTHrP in cartilage]. [electronic resource] by Li, Minqi Amizuka, Norio Producer: 20061003 In: Clinical calcium vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4931.	Evaluation of the efficacy of vitamin D3 or its metabolites on thiram-induced tibial dyschondroplasia in chickens. [electronic resource] by Rath, N C Kannan, L Pillai, P B Huff, W E Huff, G R Horst, R L Emmert, J L Producer: 20070914 In: Research in veterinary science vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4932.	Bilateral valgus-extension osteotomy of hip using hybrid external fixator in spondyloepiphyseal dysplasia: early results of a salvage procedure. [electronic resource] by Shetty, Gautam M Song, Hae Ryong Lee, Seok-Hyun Kim, Tae-Young Producer: 20080925 In: Journal of pediatric orthopedics. Part B vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4933.	[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. [electronic resource] by Lahmar-Boufaroua, Ahlem Yacoubi, Mohamed Tahar Hmisssa, Sihem Selmi, Mohamed Korbi, Sadok Producer: 20090731 In: La Tunisie medicale vol. 87 Availability: No items available. Save to lists Add to cart (remove)
	4934.	A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. [electronic resource] by Hytönen, Marjo K Arumilli, Meharji Lappalainen, Anu K Kallio, Heli Snellman, Marjatta Sainio, Kirsi Lohi, Hannes Producer: 20130326 In: PloS one vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4935.	Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. [electronic resource] by Benito-Sanz, Sara Royo, Jose Luis Barroso, Eva Paumard-Hernández, Beatriz Barreda-Bonis, Ana C Liu, Pengfei Gracía, Ricardo Lupski, James R Campos-Barros, Ángel Gómez-Skarmeta, José Luis Heath, Karen Elise Producer: 20130107 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)
	4936.	Type I interferonopathies: mendelian type I interferon up-regulation. [electronic resource] by Crow, Yanick J Producer: 20151109 In: Current opinion in immunology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4937.	Proteomic analysis of lymphoblastoid cells from Nasu-Hakola patients: a step forward in our understanding of this neurodegenerative disorder. [electronic resource] by Giuliano, Serena Agresta, Anna Maria De Palma, Antonella Viglio, Simona Mauri, Pierluigi Fumagalli, Marco Iadarola, Paolo Montalbetti, Lorenza Salvini, Roberta Bardoni, Anna Producer: 20150811 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4938.	Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes. [electronic resource] by Al Kaissi, Ali Ganger, Rudolf Roetzer, Katharina M Schwarzbraun, Thomas Klaushofer, Klaus Grill, Franz Producer: 20130805 In: Orthopaedic surgery vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4939.	Occipitocervical fusion in skeletal dysplasia: a new surgical technique. [electronic resource] by Sitoula, Prakash Mackenzie, William G Shah, Suken A Thacker, Mihir Ditro, Colleen Holmes, Laurens Campbell, Jeffrey W Rogers, Kenneth J Producer: 20150420 In: Spine vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4940.	A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. [electronic resource] by Higuchi, Yousuke Hasegawa, Kosei Yamashita, Miho Tanaka, Hiroyuki Tsukahara, Hirokazu Producer: 20180508 In: Journal of medical case reports vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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