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Items: 11

1.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Esmer AC, Sivrikoz TS, Gulec EY, Sezer S, Kalelioglu I, Has R, Yuksel A.

J Ultrasound Med. 2016 Oct;35(10):2285-91. doi: 10.7863/ultra.15.11040. Epub 2016 Aug 31. Review.

PMID:
27582535
2.

Congenital muscular dystrophy: from muscle to brain.

Falsaperla R, Praticò AD, Ruggieri M, Parano E, Rizzo R, Corsello G, Vitaliti G, Pavone P.

Ital J Pediatr. 2016 Aug 31;42(1):78. doi: 10.1186/s13052-016-0289-9. Review.

3.

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.

Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T.

Mol Aspects Med. 2016 Oct;51:115-24. doi: 10.1016/j.mam.2016.07.003. Epub 2016 Jul 12. Review.

PMID:
27421908
4.

[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].

Ishigaki K.

Brain Nerve. 2016 Feb;68(2):119-27. doi: 10.11477/mf.1416200361. Review. Japanese.

PMID:
26873231
5.

[Current status and future prospects of research on Fukuyama muscular dystrophy].

Toda T.

Nihon Rinsho. 2015 Aug;73(8):1425-36. Review. Japanese.

PMID:
26281700
6.

Congenital basis of posterior fossa anomalies.

Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R.

Neuroradiol J. 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665. Review.

7.

N-acetylglucosamine modification in the lumen of the endoplasmic reticulum.

Ogawa M, Sawaguchi S, Furukawa K, Okajima T.

Biochim Biophys Acta. 2015 Jun;1850(6):1319-24. doi: 10.1016/j.bbagen.2015.03.003. Epub 2015 Mar 17. Review.

PMID:
25791024
8.

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

Hoffman JD, Park JJ, Schreiber-Agus N, Kornreich R, Tanner AK, Keiles S, Friedman KJ, Heim RA.

Prenat Diagn. 2014 Dec;34(12):1161-7. doi: 10.1002/pd.4446. Epub 2014 Jul 31. Review.

PMID:
24996053
9.

New developments in exon skipping and splice modulation therapies for neuromuscular diseases.

Touznik A, Lee JJ, Yokota T.

Expert Opin Biol Ther. 2014 Jun;14(6):809-19. doi: 10.1517/14712598.2014.896335. Epub 2014 Mar 12. Review.

PMID:
24620745
10.

Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.

Cylwik B, Lipartowska K, Chrostek L, Gruszewska E.

Acta Biochim Pol. 2013;60(3):361-8. Epub 2013 Sep 19. Review.

11.

[Fukuyama muscular dystrophy: elucidation of the gene and pathogenesis and approaches toward molecular targeting therapy].

Toda T, Taniguchi-Ikeda M, Kanagawa M, Kobayashi K.

Seikagaku. 2013 Apr;85(4):253-60. Review. Japanese. No abstract available.

PMID:
23717870

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