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American Journal of Medical Genetics. Part A|June 20, 2012
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping casesSamantha A Schrier, Joann N Bodurtha, Barbara Burton, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuriaNicola Longo, David Dimmock, Harvey Levy, et al.
Pediatric Neurology|April 16, 2013
CDKL5 and ARX mutations in males with early-onset epilepsyGhayda M Mirzaa, Alex R Paciorkowski, Eric D Marsh, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|February 28, 2008
Neuroimaging findings in children with rare or novel de novo chromosomal anomaliesLeon G Epstein, Ali Jalali, Ajit N Chary, et al.
Plos One|September 10, 2014
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
American Journal of Medical Genetics. Part A|May 25, 2019
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic featuresElliot S Stolerman, Elizabeth Francisco, Jennifer L Stallworth, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
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