Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Infective Endocarditis
Lancet 404:377-392, Li,M.,et al, 2024
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Congenital Asymmetric Crying Facies Syndrome, A Case Report
Medicine 97:31(e11403), Liang,X. & He,B., 2018
Infective Endocarditis
Lancet 387:882-893, Cahill, T.J. & Prendergast, B.D., 2016
Clinical Manifestations and Evaluation of Adults with Suspected Native Valve Endocarditis
UpToDate Feb, Sexton, D.J. & Fowler,Jr., V.G., 2016
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
Clin Inf Dis 30:336-341, Lamas, C.C. & Eykyn, S.J., 2000
Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
Circulation 97:2043-2048, Benson,D.W.,et al, 1998
Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
Transesophageal Echocardiography
NEJM 332:1268-1279, Daniel,W.G.&Mugge,A., 1995
Familial Atrioventricular Septal Defect:Possible Genetic Mechanisms
Br Heart J 71:79-81, Kumar,A.,et al, 1994
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Echocardiography
NEJM 323:165-172, Popp,R.L., 1990
Cerebral Infarction and Ventricular Septal Defect
Stroke 20:957-958, Shuiab,A., 1989
Neurological and Developmental Findings in Children with Cataracts
Am J Dis Child 13:706-710, Pike,M.G.,et al, 1989
Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
Arch Neurol 34:174, Okihiro,M.M.,et al, 1977