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	1.	Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. [electronic resource] by Kimonis, Virginia E Watts, Giles D J Producer: 20060411 In: Alzheimer disease and associated disorders vol. 19 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. [electronic resource] by Neilan, Edward Pikman, Yana Kimonis, Virginia E Producer: 20060731 In: Ophthalmic genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. [electronic resource] by Maclean, Andrew E Kimonis, Virginia E Balk, Janneke Producer: 20190422 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. [electronic resource] by Weihl, Conrad C Pestronk, Alan Kimonis, Virginia E Producer: 20090728 In: Neuromuscular disorders : NMD vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. [electronic resource] by Baris, Hagit Tan, Wen-Hann Kimonis, Virginia E Producer: 20050627 In: American journal of medical genetics. Part A vol. 134A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. [electronic resource] by Kimonis, Virginia E Fulchiero, Erin Vesa, Jouni Watts, Giles Producer: 20090224 In: Biochimica et biophysica acta vol. 1782 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing? [electronic resource] by Alkuraya, Fowzan S Martin, Christa L Kimonis, Virginia E Producer: 20060803 In: Prenatal diagnosis vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? [electronic resource] by Alkuraya, Fowzan S Picker, Jonathan Irons, Mira B Kimonis, Virginia E Producer: 20051201 In: Birth defects research. Part A, Clinical and molecular teratology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Cockayne syndrome: the developing phenotype. [electronic resource] by Tan, Wen-Hann Baris, Hagit Robson, Caroline D Kimonis, Virginia E Producer: 20050627 In: American journal of medical genetics. Part A vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	What syndrome is this? Laryngo-onycho-cutaneous syndrome. [electronic resource] by Kim, Caroline Choi Liang, Marilyn G Pfendner, Ellen Kimonis, Virginia E Producer: 20070731 In: Pediatric dermatology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". [electronic resource] by Alkuraya, Fowzan S Kimonis, Virginia E Holt, Laura Murata-Collins, Joyce L Producer: 20050418 In: American journal of medical genetics. Part A vol. 132A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. [electronic resource] by Baris, Hagit N Tan, Wen-Hann Kimonis, Virginia E Irons, Mira B Producer: 20080108 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. [electronic resource] by Alkuraya, Fowzan S Lin, Angela E Irons, Mira B Kimonis, Virginia E Producer: 20050418 In: American journal of medical genetics. Part A vol. 132A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Humoral immune deficiency and hemifacial microsomia seen in one family. [electronic resource] by Mikhak, Zamaneh Mulliken, John B Lee, John Bonilla, Francisco A Kimonis, Virginia E Producer: 20100127 In: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease. [electronic resource] by Nalbandian, Angèle Llewellyn, Katrina J Nguyen, Christopher Monuki, Edward S Kimonis, Virginia E Producer: 20151026 In: Human gene therapy methods vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Immunoglobulin deficiency in Stickler syndrome. [electronic resource] by Mikhak, Zamaneh Kelly, Pamela Cohen, Tatyana S Cox, Joanne E Kimonis, Virginia E Producer: 20070125 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. [electronic resource] by Nalbandian, Angèle Llewellyn, Katrina J Nguyen, Christopher Yazdi, Puya G Kimonis, Virginia E Producer: 20160114 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype. [electronic resource] by Shamirian, Sharis Nalbandian, Angèle Khare, Manaswitha Castellani, Rudolph Kim, Ronald Kimonis, Virginia E Producer: 20151120 In: Alzheimer disease and associated disorders vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. [electronic resource] by Watts, Giles D J Thorne, M Kovach, M J Pestronk, A Kimonis, Virginia E Producer: 20031007 In: Neuromuscular disorders : NMD vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. [electronic resource] by Kimonis, Virginia E Mehta, Sarju G Digiovanna, John J Bale, Sherri J Pastakia, Behram Producer: 20050204 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 6 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 77 results.