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Isabel Lorda-Sánchez

Complutense University of Madrid

5

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75

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ACONDROPLASIA : ESTUDIO MOLECULAR DE 28 PACIENTES

1998 Medicina Clinica
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Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

1997 American Journal of Medical Genetics
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Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl

1997 American Journal of Medical Genetics
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Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?

1996 Human Genetics
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Distal deletion of chromosome 13 in a child with the “Opitz” GBBB syndrome

1995 American Journal of Medical Genetics
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Citations (10)