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American Journal of Medical Genetics|March 31, 1997
Nasal dimple as part of the 22q11.2 deletion syndromeK W Gripp, D M McDonald-McGinn, D A Driscoll, et al.American Journal of Medical Genetics|April 1, 1993
46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridizationN B Spinner, J A Biegel, L Sovinsky, et al.The Journal of Pediatrics|September 13, 2003
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasiaCarol L Clericuzio, Emily Chen, Dawn Elizabeth McNeil, et al.Annals of Neurology|September 1, 1991
Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletionB J Weiss, J Kamholz, A Ritter, et al.American Journal of Medical Genetics. Part A|April 28, 2015
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnosesYuri A Zarate, Katherine A Bosanko, Elizabeth Bhoj, et al.Neuroscience Letters|March 7, 2006
Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndromeJoel P Bish, Akshay Pendyal, Lijun Ding, et al.American Journal of Human Genetics|July 25, 2000
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)H Kurahashi, T H Shaikh, E H Zackai, et al.The Journal of Pediatrics|January 1, 1994
Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expressionS Boggs, M C Harris, D J Hoffman, et al.Journal of Neuropathology and Experimental Neurology|November 5, 1997
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndromeM R Del Bigio, C R Greenberg, L B Rorke, et al.European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|April 28, 2009
Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgeryStephanie Fuller, Alex S Nord, Marsha Gerdes, et al.Pageof 63