Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.

Isa Bernardini, William B. Rizzo, Marinos C. Dalakas, +2

Journal of Clinical Investigation

UrologyRenal FunctionMedicinePhysiologyRenal Pathology +8

A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

Harold N. Bass, R S Sparkes, M M Lessner, +3

Journal of Medical Genetics

Down SyndromeIndependent Autosomal TranslocationsDevelopmental AnomalyDevelopmental BiologyMendelian Disorder +11

Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cells.

Juan Bernar, Frank Tietze, Leonard D. Kohn, +4

Journal of Biological Chemistry

Cellular PhysiologyMembrane TransportBiochemistryMembrane BiologyMembrane System +14

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.

William A. Gahl, Isa Bernardini, Marinos C. Dalakas, +5

Journal of Clinical Investigation

Electrolyte DisorderUrologyHealth SciencesMedicineOral Carnitine Therapy +11

MRI Findings and Peripheral Neuropathy in Lowe's Syndrome

Lawrence Charnas, Juan Bernar, G. Pezeshkpour, +3

Neuropediatrics

Peripheral NeuropathyOphthalmologyNeurophysiologyNeuroanatomyMedicine +13

Congenital heart disease in supernumerary der(22), t(11;22) syndrome

Angela E. Lin, Juan Bernar, Alvin J. Chin, +3

Clinical Genetics

Acyanotic LesionsHeart FailureSupernumerary DerPediatric Heart DiseasePediatrics +7

Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function

Juan Bernar, Rebecca Hanson, Rita M. Kern, +3

The Journal of Pediatrics

Mild ImpairmentIntellectual FunctionPediatricsNeuropathologyMedicine +2

Screening for Adenylosuccinate Lyase Deficiency: Clinical, Biochemical and Molecular Findings in Four Patients

M. Di Castro, Celia Pérez‐Cerdá, B. Merinero, +10

Neuropediatrics

Interstitial deletion 2q24.3: case report with high resolution banding.

Juan Bernar, R.S. Sparkes, S Allensworth

Journal of Medical Genetics

CytogeneticsInterstitial DeletionsGeneticsBand 2Q24Molecular Biology +17

Specificity of electroclinical features in the diagnosis of ring chromosome 20

Ana Beatriz Gago‐Veiga, Rafael Toledano, Irene García‐Morales, +3

Epilepsy & Behavior

Electroclinical FeaturesCytogeneticsGeneticsChromosome BiologyMedicine +3