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QUADRELLI, ROBERTO [Author]
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Larrandaburu, Mariela et al.
Síndrome de pterigium múltiple: recurrencia en una familia
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Arch. Pediatr. Urug.
, Dic 2009, vol.80, no.4, p.284-290. ISSN 1688-1249
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Lemes, Aída et al.
Un fenotipo clínicamente reconocible: síndrome alfa-talasemia con retraso mental ligado al cromosoma X (ATR-X). Análisis clínico y molecular en dos hermanos
.
Arch. Pediatr. Urug.
, Jun 2009, vol.80, no.2, p.123-128. ISSN 1688-1249
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Vaglio, Alicia et al.
Síndrome de trisomía 9p: características clínico-evolutivas y citogenéticas. Seguimiento de doce años
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Arch. Pediatr. Urug.
, Jun 2007, vol.78, no.2, p.151-156. ISSN 1688-1249
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Moraes, Mariana et al.
Atrofia muscular espinal y bulbar: enfermedad de Kennedy. Aspectos clínicos y genéticos
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Rev. Méd. Urug.
, Set 2019, vol.35, no.3, p.160-175. ISSN 1688-0390
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Roselli, María Jesús et al.
Experiencia metodológica en pesquisa neonatal de hiperfenilalaninemias.
Instituto de Genética Médica (Hospital Italiano)
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Rev. Méd. Urug.
, Mar 2004, vol.20, no.1, p.72-78. ISSN 1688-0390
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Larrandaburu, Mariela et al.
Neoplasia endocrina múltiple tipo 1. Presentación de una familia afectada con diagnóstico molecular
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Rev. Méd. Urug.
, Set 2008, vol.24, no.3, p.203-211. ISSN 1688-0390
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Vaglio, Alicia et al.
CADASIL
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comunicación de una familia uruguaya con definición clínica, imagenológica, anatomopatológica y genética molecular
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Rev. Méd. Urug.
, Mar 2008, vol.24, no.1, p.24-31. ISSN 1688-0390
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Vaglio, Alicia et al.
Limitaciones de los estudios de genética molecular en el proceso diagnóstico de fibrosis quística
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Rev. Méd. Urug.
, Set 2011, vol.27, no.3, p.129-137. ISSN 1688-0390
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