Hopkin RJ - Search Results

1

CNTNAP1-Related Congenital Hypomyelinating Neuropathy.

Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. Lesmana H, et al. Among authors: hopkin rj. Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28. Pediatr Neurol. 2019. PMID: 30686628 Review.

2

Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

Steiner RD, St J Dignan P, Hopkin RJ, Kozielski R, Bove KE. Steiner RD, et al. Among authors: hopkin rj. Am J Med Genet. 2002 Feb 15;108(1):45-50. doi: 10.1002/ajmg.10167. Am J Med Genet. 2002. PMID: 11857549

3

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome.

Tang Y, Schapiro MB, Franz DN, Patterson BJ, Hickey FJ, Schorry EK, Hopkin RJ, Wylie M, Narayan T, Glauser TA, Gilbert DL, Hershey AD, Sharp FR. Tang Y, et al. Among authors: hopkin rj. Ann Neurol. 2004 Dec;56(6):808-14. doi: 10.1002/ana.20291. Ann Neurol. 2004. PMID: 15562430

4

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

5

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.

6

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

7

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.

8

Characterization of congenital anomalies in individuals with choanal atresia.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Burrow TA, et al. Among authors: hopkin rj. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7. doi: 10.1001/archoto.2009.53. Arch Otolaryngol Head Neck Surg. 2009. PMID: 19528400

9

Acute progression of neuromuscular findings in infantile Pompe disease.

Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Burrow TA, et al. Among authors: hopkin rj. Pediatr Neurol. 2010 Jun;42(6):455-8. doi: 10.1016/j.pediatrneurol.2010.02.006. Pediatr Neurol. 2010. PMID: 20472203

10

Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.

Tenney JR, Hopkin RJ, Schapiro MB. Tenney JR, et al. Among authors: hopkin rj. J Child Neurol. 2011 Feb;26(2):223-7. doi: 10.1177/0883073810379638. Epub 2010 Sep 10. J Child Neurol. 2011. PMID: 20833799

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

203 results

Search Page

Filters