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Clinical Dysmorphology|November 4, 2008
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven casesLesley C Adès
Clinical Dysmorphology|June 15, 2004
Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?Ingrid B Sinnerbrink, Lesley C Adès
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|September 18, 2007
Deletion 22q11.2 syndrome--implications for the intensive care physicianVishal Jatana, Jonathan Gillis, Boyd H Webster, et al.
Clinical Dysmorphology|October 18, 2003
A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in uteroKatherine R Neas, Nicole Chia, Melanie Clarke, et al.
American Journal of Medical Genetics. Part A|April 1, 2004
Ectopia lentis phenotypes and the FBN1 geneLesley C Adès, Katherine J Holman, Maggie S Brett, et al.
American Journal of Medical Genetics|May 7, 2002
Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generationsLesley C Adès, Darshikka Sreetharan, Ella Onikul, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Primary trabeculodysgenesis in association with neonatal Marfan syndromeCharlotte M Whitelaw, Samira Anwar, Lesley C Adès, et al.
American Journal of Medical Genetics. Part A|January 18, 2005
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndromeKenneth Maclean, James Smith, Luke St Heaps, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunctionWendy A Gold, Nara Sobreira, Elsa Wiame, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?Kenneth Maclean, Stephen A Holme, Elizabeth Gilmour, et al.
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