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Amelia Villa

Short rib‐polydactyly syndrome and pericentric inversion of chromosome 4
1994 · Miguel Urioste, María Luisa Martínez‐Frías, et al. · American Journal of Medical Genetics · 110
Unusual four‐generation chromosome‐22 rearrangement: When “normality” masks abnormality
2009 · Julián Nevado, M. Luisa de Torres, et al. · American Journal of Medical Genetics Part A · 71
De novo interstitial deletion q16.2q21 on chromosome 6
1995 · Amelia Villa, Miguel Urioste, et al. · American Journal of Medical Genetics · 60
Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome
1994 · Miguel Urioste, Guillermo Visedo, et al. · American Journal of Medical Genetics · 60
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion
1997 · Isabel Lorda-Sánchez, Miguel Urioste, et al. · American Journal of Medical Genetics · 33
Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)
2000 · Amelia Villa, Enrique Gal�n Gomez, et al. · American Journal of Medical Genetics · 28
Ring chromosome 7 and sacral agenesis
2000 · Laura Rodr�guez, Amparo Sanch�s, et al. · American Journal of Medical Genetics · 21
Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl
1997 · Isabel Lorda-Sánchez, Amelia Villa, et al. · American Journal of Medical Genetics · 19
Limb deficiencies in infants with trisomy 13
2000 · Mar�a Luisa Mart�nez-Fr�as, Amelia Villa, et al. · American Journal of Medical Genetics · 12
Distal deletion of chromosome 13 in a child with the “Opitz” GBBB syndrome
1995 · Miguel Urioste, Ignacio Arroyo, et al. · American Journal of Medical Genetics · 12
Chromosome 4p16 and osteochondroplasias
1994 · Miguel Urioste, Maria Luisa Martinez-Frias, et al. · Nature Genetics · 11
Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia
1997 · Miguel Urioste, José I. Rodríguez, et al. · American Journal of Medical Genetics · 9
Works count: 13
Citation count: 446
H-index: 11
I10-index: 11
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