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	1.	Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors. [electronic resource] by Jonas, R E Kimonis, V E Producer: 20010726 In: American journal of medical genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. [electronic resource] by Jonas, R E Kimonis, V E Morales, A Producer: 19980212 In: American journal of medical genetics vol. 73 Availability: No items available. Save to lists Add to cart (remove)
	3.	Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). [electronic resource] by Steller, J Gargus, J J Gibbs, L H Hasso, A N Kimonis, V E Producer: 20140911 In: Neuropediatrics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. [electronic resource] by Pulkkinen, L Kimonis, V E Xu, Y Spanou, E N McLean, W H Uitto, J Producer: 19970721 In: Human molecular genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. [electronic resource] by Fanganiello, R D Kimonis, V E Côrte, C C Nitrini, R Passos-Bueno, M R Producer: 20120209 In: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. [electronic resource] by Kimonis, V E Troendle, J Rose, S R Yang, M L Markello, T C Gahl, W A Producer: 19951228 In: The Journal of clinical endocrinology and metabolism vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature. [electronic resource] by Kovach, M J Campbell, K C M Herman, K Waggoner, B Gelber, D Hughes, L F Kimonis, V E Producer: 20020424 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)
	8.	Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. [electronic resource] by Kimonis, V E Kovach, M J Waggoner, B Leal, S Salam, A Rimer, L Davis, K Khardori, R Gelber, D Producer: 20010426 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Genetic heterogeneity in autosomal dominant essential tremor. [electronic resource] by Kovach, M J Ruiz, J Kimonis, K Mueed, S Sinha, S Higgins, C Elble, S Elble, R Kimonis, V E Producer: 20011018 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. [electronic resource] by Yin, H Z Nalbandian, A Hsu, C-I Li, S Llewellyn, K J Mozaffar, T Kimonis, V E Weiss, J H Producer: 20121108 In: Cell death & disease vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mild fumarase deficiency and a trial of low protein diet. [electronic resource] by Kimonis, V E Steller, J Sahai, I Grange, D K Shoemaker, J Zelaya, B M Mandell, R Shih, K Shih, V Producer: 20130129 In: Molecular genetics and metabolism vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. [electronic resource] by Kimonis, V E Goldstein, A M Pastakia, B Yang, M L Kase, R DiGiovanna, J J Bale, A E Bale, S J Producer: 19970606 In: American journal of medical genetics vol. 69 Availability: No items available. Save to lists Add to cart (remove)
	13.	A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. [electronic resource] by Kovach, M J Lin, J P Boyadjiev, S Campbell, K Mazzeo, L Herman, K Rimer, L A Frank, W Llewellyn, B Jabs, E W Gelber, D Kimonis, V E Producer: 19990624 In: American journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. [electronic resource] by Watts, G D J Thomasova, D Ramdeen, S K Fulchiero, E C Mehta, S G Drachman, D A Weihl, C C Jamrozik, Z Kwiecinski, H Kaminska, A Kimonis, V E Producer: 20080104 In: Clinical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. [electronic resource] by Mehta, S G Khare, M Ramani, R Watts, G D J Simon, M Osann, K E Donkervoort, S Dec, E Nalbandian, A Platt, J Pasquali, M Wang, A Mozaffar, T Smith, C D Kimonis, V E Producer: 20130923 In: Clinical genetics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. [electronic resource] by Kovach, M J Waggoner, B Leal, S M Gelber, D Khardori, R Levenstien, M A Shanks, C A Gregg, G Al-Lozi, M T Miller, T Rakowicz, W Lopate, G Florence, J Glosser, G Simmons, Z Morris, J C Whyte, M P Pestronk, A Kimonis, V E Producer: 20020313 In: Molecular genetics and metabolism vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)