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Clinical Genetics|July 19, 2002
Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an exampleJohn Nixon, D Cockburn, J Hopkin, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?Elizabeth A Sellars, Sarah L Zimmerman, Teresa Smolarek, et al.The Journal of Pediatrics|August 10, 2000
Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndromeR J Hopkin, E K Schorry, M Bofinger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Congenital heart disease and aortic arch variants associated with mutation in PHOX2BRachel C Lombardo, Aleksey Porollo, James F Cnota, et al.American Journal of Medical Genetics. Part A|March 22, 2019
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasiaDeema Aljeaid, Rachel C Lombardo, David P Witte, et al.Orphanet Journal of Rare Diseases|June 26, 2021
Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry DiseaseAlaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, et al.American Journal of Medical Genetics|December 8, 1998
Progressive laryngotracheal stenosis with short stature and arthropathyR J Hopkin, R Cotton, L O Langer, et al.Journal of Nursing Scholarship : an Official Publication of Sigma Theta Tau International Honor Society of Nursing|January 9, 2013
An update of childhood genetic disordersCynthia A Prows, Robert J Hopkin, Sivia Barnoy, et al.The Journal of Pediatrics|July 15, 2009
DiGeorge anomaly in the absence of chromosome 22q11.2 deletionAlan F Rope, Deborah L Cragun, Howard M Saal, et al.Pediatric Neurology|May 18, 2010
Acute progression of neuromuscular findings in infantile Pompe diseaseT Andrew Burrow, Laurie A Bailey, Douglas G Kinnett, et al.Pageof 20