9 results on '"Jeannet P"'
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2. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
3. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
4. P296 GLUT1 deficiency with paroxysmal gait, movement and behaviour disorder and mild transient epilepsy
5. C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation
6. C.O.3 Endoplasmic reticulum retention of COL6 chains in Ullrich congenital muscular dystrophy
7. G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)
8. G.P.5.03 An infant with a congenital inflammatory myopathy further broadens the phenotypes of laminopathies
9. 120 Intranasal or sublingual midazolam for treating acute seizures in children at home
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