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Poling, Justin S; Phillips 3rd, John A; Cogan, Joy D et al. (2011) Pharmacologic correction of dominant-negative GH1 deficiency causing mutations. Clin Transl Sci 4:175-9
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Hamid, Rizwan; Phillips 3rd, John A; Holladay, Cindy et al. (2009) A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II. J Clin Endocrinol Metab 94:4728-34
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Mohamadi, Ali; Martari, Marco; Holladay, Cindy D et al. (2009) Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. J Clin Endocrinol Metab 94:2565-70
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Solis, Amanda S; Peng, Rui; Crawford, J Barrett et al. (2008) Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically. J Biol Chem 283:23619-26
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Shariat, N; Holladay, C D; Cleary, R K et al. (2008) Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. Clin Genet 74:539-45
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Shariat, Nikki; Ryther, Robin C C; Phillips 3rd, John A et al. (2008) Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference. Endocrinology 149:580-6
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Raskin, S; Petzl-Erler, M L; Phillips 3rd, J A et al. (2007) Cystic fibrosis gene variability in two southern Brazilian Amerindian populations: analysis of the deltaF508 mutation and the KM19 and XV2C haplotypes. Hum Biol 79:79-91
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Hayashi, Yoshitaka; Kamijo, Takashi; Yamamoto, Michiyo et al. (2007) A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion. Growth Horm IGF Res 17:249-53
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Cogan, Joy D; Phillips 3rd, John A (2006) New methods in genetic diagnosis including prenatal diagnosis. Pediatr Endocrinol Rev 3 Suppl 3:424-33; discussion 434-6
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Ryther, R C C; Flynt, A S; Phillips 3rd, J A et al. (2005) siRNA therapeutics: big potential from small RNAs. Gene Ther 12:5-11
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Showing the most recent 10 out of 54 publications
