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Journal of Medical Genetics|June 1, 1985
Interstitial deletion 2q24.3: case report with high resolution bandingJ Bernar, R S Sparkes, S Allensworth
The Journal of Clinical Investigation|April 1, 1985
Plasma and muscle free carnitine deficiency due to renal Fanconi syndromeI Bernardini, W B Rizzo, M Dalakas, et al.
Hernia : the Journal of Hernias and Abdominal Wall Surgery|March 11, 2022
Body Mass Index impact on Extended Total Extraperitoneal Ventral Hernia Repair: a comparative studyC Sánchez García, I Osorio, J Bernar, et al.
Journal of Medical Genetics|February 1, 1985
A family with three independent autosomal translocations associated with 7q32----7qter syndromeH N Bass, R S Sparkes, M M Lessner, et al.
Neuropediatrics|February 1, 1988
MRI findings and peripheral neuropathy in Lowe's syndromeL Charnas, J Bernar, G H Pezeshkpour, et al.
The Journal of Biological Chemistry|July 5, 1988
Thyrotropin stimulation of lysosomal tyrosine transport in rat FRTL-5 thyroid cellsG S Harper, L D Kohn, I Bernardini, et al.
Clinical Genetics|April 1, 1986
Congenital heart disease in supernumerary der(22),t(11;22) syndromeA E Lin, J Bernar, A J Chin, et al.
The Journal of Biological Chemistry|December 25, 1986
Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cellsJ Bernar, F Tietze, L D Kohn, et al.
Epilepsy & Behavior : E&B|February 8, 2018
Specificity of electroclinical features in the diagnosis of ring chromosome 20A B Gago-Veiga, R Toledano, I García-Morales, et al.
The Journal of Clinical Investigation|February 1, 1988
Oral carnitine therapy in children with cystinosis and renal Fanconi syndromeW A Gahl, I Bernardini, M Dalakas, et al.
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