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Refinado por: Base de dados/Biblioteca: Wiley Online Library remover tipo de recurso: Reports remover
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A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)
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A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)

Busse, Andreas ; Sánchez, María A. ; Monterroso, Victoria ; Alvarado, Marco V. ; León, Pedro

American Journal of Medical Genetics Part A, 2004, Vol.128A (2), p.190-194

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
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Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

Spranger, S. ; Kirsch, S. ; Mertz, A. ; Schiebel, K. ; Tariverdian, G. ; Rappold, G.A.

Clinical Genetics, 1997, Vol.51 (5), p.346-350

Oxford, UK: Blackwell Publishing Ltd

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3
Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation
Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation
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Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

Polizzi, Angela ; Francavilla, Ruggiero ; Castaldo, Giuseppe ; Santostasi, Teresa ; Tomaiuolo, Rossella ; Manca, Antonio ; De Robertis, Francesco ; Mappa, Luigi ; Oliverio, Francesca Paola ; Salvatore, Francesco ; Rigillo, Nicola

American Journal of Medical Genetics Part A, 2005, Vol.132A (4), p.434-440

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
A case of acute radiation syndrome from the dermatological aspect
A case of acute radiation syndrome from the dermatological aspect
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A case of acute radiation syndrome from the dermatological aspect

Hoashi, T. ; Okochi, H. ; Kadono, T. ; Tamaki, K. ; Nishida, M. ; Futami, S. ; Maekawa, K.

British Journal of Dermatology, 2008, Vol.158 (3), p.597-602

Oxford, UK: Blackwell Publishing Ltd

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5
Thermosensitive lichen amyloidosis
Thermosensitive lichen amyloidosis
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Thermosensitive lichen amyloidosis

Parsi, Kurosh ; Kossard, Steven

International Journal of Dermatology, 2004, Vol.43 (12), p.925-928

Oxford, UK: Blackwell Science Ltd

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