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American Journal of Medical Genetics. Part A|April 2, 2004
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndromeFiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, et al.The Journal of Molecular Diagnostics : JMD|May 14, 2013
Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie R Rowe, Harshwardhan M Thaker, John M Opitz, et al.American Journal of Medical Genetics. Part A|October 15, 2013
Elements of morphology: general terms for congenital anomaliesRaoul C Hennekam, Leslie G Biesecker, Judith E Allanson, et al.American Journal of Clinical Pathology|July 2, 2002
Pediatric laboratory medicine: current challenges and future opportunitiesCheryl M Coffin, Marilyn S Hamilton, Theodore J Pysher, et al.Obstetrics and Gynecology|February 7, 2020
Umbilical Cord Abnormalities and StillbirthIbrahim A Hammad, Nathan R Blue, Amanda A Allshouse, et al.Journal of Human Genetics|September 1, 2017
Santos syndrome is caused by mutation in the WNT7A geneLeandro U Alves, Silvana Santos, Camila M Musso, et al.European Journal of Human Genetics : EJHG|July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.Proceedings of the National Academy of Sciences of the United States of America|April 6, 2011
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeSarah B Pierce, Karen M Chisholm, Eric D Lynch, et al.American Journal of Medical Genetics. Part A|November 12, 2005
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, et al.Scientific Reports|January 14, 2018
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C SyndromeRoser Urreizti, Sarah Damanti, Carla Esteve, et al.Pageof 11