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215 results

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Page 1
Aphallia, lung agenesis and multiple defects of blastogenesis.
Gérard-Blanluet M, Lambert V, Khung-Savatovsky S, Perrin-Sabourin L, Passemard S, Baumann C, Delezoide AL, Verloes A. Gérard-Blanluet M, et al. Among authors: delezoide al. Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698. Fetal Pediatr Pathol. 2011. PMID: 21204662
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. Keren B, et al. Among authors: delezoide al. Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784. Am J Med Genet A. 2007. PMID: 17546652 No abstract available.
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Guimiot F, et al. Among authors: delezoide al. Am J Med Genet A. 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859. Am J Med Genet A. 2009. PMID: 19449422
Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication.
Guilherme R, Guimiot F, Tabet AC, Khung-Savatovsky S, Gauthier E, Nouchy M, Benzacken B, Verloes A, Oury JF, Delezoide AL, Aboura A. Guilherme R, et al. Among authors: delezoide al. Am J Med Genet A. 2009 Dec;149A(12):2892-7. doi: 10.1002/ajmg.a.33135. Am J Med Genet A. 2009. PMID: 19938079 No abstract available.
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F. Quelin C, et al. Among authors: delezoide al. Am J Med Genet A. 2014 Oct;164A(10):2504-9. doi: 10.1002/ajmg.a.36658. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975584
Abnormal abdominal situs: what and how should we look for?
Salomon LJ, Baumann C, Delezoide AL, Oury JF, Pariente D, Sebag G, Garel C. Salomon LJ, et al. Among authors: delezoide al. Prenat Diagn. 2006 Mar;26(3):282-5. doi: 10.1002/pd.1401. Prenat Diagn. 2006. PMID: 16506280
215 results