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Acro‐cardio‐facial syndrome: A microdeletion syndrome? We compare the clinical features of the present patient with earlier reported patients with similar 6q deletions and patients diagnosed with ACFS The similarities between these patient groups suggest that ACFS may be a microdeletion syndrome caused by loss of the 6q21-22 3 region
ISSN 1552-4833 (Online) | American journal of medical . . . For all potential issues concerning the description of the publication identified by this bibliographic record (missing or wrong data etc ), please contact the ISSN National Centre mentioned above by clicking on the link
Genetic Hearing Loss Associated with Craniofacial . . . Open access Genetic Hearing Loss Associated with Craniofacial Abnormalities Written By S Lunardi, F Forli, A Michelucci, A Liumbruno, F Baldinotti, A Fogli, V Bertini, A Valetto, B Toschi, P Simi, A Boldrini, S Berrettini and P Ghirri
American Journal of Medical Genetics Part A - Wiley Online . . . Readers will find ground-breaking insight on phenotype and molecular analysis of known disorders and new syndromes We have a broad readership of physicians, medical geneticists and associated professionals
A 17q duplication prenatally detected - PubMed 2 Cytogenetics and Molecular Genetic Unit, Azienda Ospedaliera Universitaria Pisana, S Chiara Hospital, 56100 Pisa, Italy Electronic address: a valetto@ao-pisa toscana it
Table of Contents, Volume 158A, Number 8, August 2012 . . . Benedetta Toschi, Angelo Valetto, Veronica Bertini, Caterina Congregati, Massimiliano Cantinotti, Nadia Assanta, and Paolo Simi Published online 27 June 2012 2000 Congenital Corneal Staphyloma as a Complication of Kabuki Syndrome Ryuma Tanaka, Toshiki Takenouchi, Keiko Uchida, Takeshi Sato, Hiroyuki Fukushima, Hiroshi Yoshihashi, page 2001