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The Journal of Clinical Endocrinology and Metabolism|February 12, 2002
An exon splice enhancer mutation causes autosomal dominant GH deficiencyChanda T Moseley, Primus E Mullis, Melissa A Prince, et al.Human Genetics|April 30, 2003
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD IIRobin C C Ryther, Lindsay M McGuinness, John A Phillips, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 12, 2004
Genetics of growth retardationJohn A PhillipsThe Journal of Clinical Investigation|December 9, 2003
Dominant-negative diabetes insipidus and other endocrinopathiesJohn A PhillipsOtolaryngologic Clinics of North America|November 26, 2011
Genetic approach to evaluation of hearing lossMelinda Cohen, John A PhillipsCureus|October 28, 2024
Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing PanelYutaka Furuta, John A PhillipsTransactions of the Royal Society of Tropical Medicine and Hygiene|October 5, 2007
Pilot study of sodium phenylbutyrate as adjuvant in cyclophosphamide-resistant endemic Burkitt's lymphomaJohn A Phillips, Beverly E GriffinPediatric Endocrinology Reviews : PER|June 15, 2007
New methods in genetic diagnosis including prenatal diagnosisJoy D Cogan, John A PhillipsThe Journal of Craniofacial Surgery|September 17, 2013
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndromeNicholas Ettinger, Misti Williams, John A PhillipsPediatric Endocrinology Reviews : PER|January 27, 2006
The role of genetics in pediatric endocrinologyAmy Potter, Vickie Hannig, John A PhillipsPageof 15