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Items: 1 to 20 of 168

1.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2018 Aug 24. doi: 10.1038/s41431-018-0235-y. [Epub ahead of print] No abstract available.

PMID:
30143805
2.

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Yu-Wai-Man C, Arno G, Brookes J, Garcia-Feijoo J, Khaw PT, Moosajee M.

Eur J Hum Genet. 2018 Nov;26(11):1713-1718. doi: 10.1038/s41431-018-0227-y. Epub 2018 Aug 8.

PMID:
30089822
3.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26. No abstract available.

PMID:
29695755
4.

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2018 Aug;26(8):1230-1233. doi: 10.1038/s41431-017-0002-5. Epub 2018 Apr 23. No abstract available.

PMID:
29681618
5.

Clinical utility gene card: for pseudoxanthoma elasticum.

Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J.

Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. No abstract available.

PMID:
29487417
6.

Clinical Utility Gene Card for: Becker muscular dystrophy.

Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. No abstract available.

PMID:
29467387
7.

Clinical utility gene card for McArdle disease.

Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ.

Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25.

PMID:
29371640
8.

Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).

Stieber C, Cichon S, Magerl M, Nöthen MM.

Eur J Hum Genet. 2017 Oct;25(10). doi: 10.1038/ejhg.2017.104. Epub 2017 Jul 5. No abstract available.

9.

Clinical utility gene card for: Tangier disease.

Hooper AJ, McCormick SPA, Hegele RA, Burnett JR.

Eur J Hum Genet. 2017 Jun;25(7). doi: 10.1038/ejhg.2017.72. Epub 2017 May 24. No abstract available.

10.

Clinical utility gene card for: Fabry disease - update 2016.

Gal A, Beck M, Höppner W, Germain DP.

Eur J Hum Genet. 2017 Jun;25(7):e1-e3. doi: 10.1038/ejhg.2017.17. Epub 2017 Mar 22. No abstract available.

11.

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.201. Epub 2017 Jan 18. No abstract available.

12.

Clinical utility gene card for: Cantú syndrome.

Kirk EP, Scurr I, van Haaften G, van Haelst MM, Nichols CG, Williams M, Smithson SF, Grange DK.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.185. Epub 2017 Jan 4. No abstract available.

13.

Clinical utility gene card for: Sitosterolaemia.

Hooper AJ, Bell DA, Hegele RA, Burnett JR.

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.187. Epub 2016 Dec 28. No abstract available.

14.

Clinical utility gene card for: 16p12.2 microdeletion.

Pizzo L, Andrieux J, Amor DJ, Girirajan S.

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16. No abstract available.

15.

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.151. Epub 2016 Nov 9. No abstract available.

16.

Clinical Utility Gene Card for: Familial partial lipodystrophy.

Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.102. Epub 2016 Aug 3. No abstract available.

17.

Clinical utility gene card for: Aniridia.

Richardson R, Hingorani M, Van Heyningen V, Gregory-Evans C, Moosajee M.

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73. Epub 2016 Jul 6. No abstract available.

18.

Clinical utility gene card for: Wolfram syndrome.

Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R.

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49. Epub 2016 May 25. No abstract available.

19.

Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.

Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O.

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.53. Epub 2016 May 18. No abstract available.

20.

Clinical utility gene card for: Meckel syndrome - update 2016.

Bergmann C, Frank V, Salonen R.

Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2016.33. Epub 2016 Apr 20. No abstract available.

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