P Franceschini
Universidade Federal da Bahia(BR)Hospital Ana Nery(BR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital limb and hand anomalies, Prenatal Screening and Diagnostics, Congenital Anomalies and Fetal Surgery, Connective tissue disorders research
Most-Cited Works
- → In an elite cross of maize a major quantitative trait locus controls one-fourth of the genetic variation for grain yield(1995)81 cited
- → Arterial tortuosity syndrome(2000)67 cited
- → Kenny–Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant(1992)61 cited
- → X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene(1988)55 cited
- → Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?(2000)54 cited
- → Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make‐up (Niikawa‐Kuroki) syndrome