Hopkin RJ - Search Results

1

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: hopkin rj. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.

2

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Cragun DL, Trumpy SK, Shackleton CH, Kelley RI, Leslie ND, Mulrooney NP, Hopkin RJ. Cragun DL, et al. Among authors: hopkin rj. Am J Med Genet A. 2004 Aug 15;129A(1):1-7. doi: 10.1002/ajmg.a.30170. Am J Med Genet A. 2004. PMID: 15266606

3

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Burrow TA, et al. Among authors: hopkin rj. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Am J Med Genet A. 2006. PMID: 16528737

4

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Burrow TA, et al. Among authors: hopkin rj. Curr Opin Pediatr. 2007 Dec;19(6):628-35. doi: 10.1097/MOP.0b013e3282f161f2. Curr Opin Pediatr. 2007. PMID: 18025928 Review.

5

Phenotypic and microscopic description of a new case of Ermine phenotype.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Zarate YA, et al. Among authors: hopkin rj. Am J Med Genet A. 2009 Jun;149A(6):1253-6. doi: 10.1002/ajmg.a.32815. Am J Med Genet A. 2009. PMID: 19449401

6

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. Kenny AP, et al. Among authors: hopkin rj. Pediatr Dev Pathol. 2009 Sep-Oct;12(5):417-20. doi: 10.2350/09-03-0628-CR.1. Pediatr Dev Pathol. 2009. PMID: 19469585 Free PMC article.

7

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923

8

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

Prada CE, Rangwala FA, Martin LJ, Lovell AM, Saal HM, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. J Pediatr. 2012 Mar;160(3):461-7. doi: 10.1016/j.jpeds.2011.08.051. Epub 2011 Oct 11. J Pediatr. 2012. PMID: 21996156

9

Severe cervical scoliosis in the fetus.

Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Prenat Diagn. 2011 Dec;31(12):1198-202. doi: 10.1002/pd.2898. Epub 2011 Oct 26. Prenat Diagn. 2011. PMID: 22031186

10

Genetic causes of macroglossia: diagnostic approach.

Prada CE, Zarate YA, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Pediatrics. 2012 Feb;129(2):e431-7. doi: 10.1542/peds.2011-1732. Epub 2012 Jan 16. Pediatrics. 2012. PMID: 22250026

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