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Cytogenetics and Cell Genetics|February 22, 2002
The pericentromeric region of human chromosome 11: evidence for a chromosome-specific duplicationJ Zhang, S Qin, S N Sait, et al.Cancer Genetics and Cytogenetics|April 27, 2010
Recurrent deletion of 9q34 in adult normal karyotype precursor B-cell acute lymphoblastic leukemiaNorma J Nowak, Sheila N J Sait, Amer Zeidan, et al.Neuromuscular Disorders : NMD|September 1, 2004
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actinCarina Wallgren-Pettersson, Katarina Pelin, Kristen J Nowak, et al.Muscle & Nerve|July 17, 2015
Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trialMichael Benatar, Michael P Mcdermott, Donald B Sanders, et al.American Journal of Medical Genetics. Part A|March 9, 2005
Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23)Carolyn M Drazinic, Adife G Ercan-Sencicek, Laura M Gault, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 17, 1998
Compound GW506U78 in refractory hematologic malignancies: relationship between cellular pharmacokinetics and clinical responseV Gandhi, W Plunkett, C O Rodriguez, et al.Human Molecular Genetics|June 6, 2013
Cardiac α-actin over-expression therapy in dominant ACTA1 diseaseGianina Ravenscroft, Elyshia McNamara, Lisa M Griffiths, et al.Neuromuscular Disorders : NMD|March 14, 2000
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletionK J Nowak, P Walsh, R L Jacob, et al.Stem Cell Research|March 19, 2021
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 geneJoshua S Clayton, Carolin K Scriba, Norma B Romero, et al.Journal of Neuropathology and Experimental Neurology|August 22, 2008
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathyBiljana Ilkovski, Nancy Mokbel, Raymond A Lewis, et al.Pageof 93