8 results on '"Calmels, Nadège"'
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2. Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia
3. Extension du spectre clinique de l’ataxie associée aux variations de STUB1
4. Growth charts in Cockayne syndrome type 1 and type 2
5. A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum
6. Renal disease in Cockayne syndrome
7. Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome
8. Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall
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