Gahl WA - Search Results

1

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Bockenhauer D, et al. Among authors: gahl wa. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.

2

Clinical and molecular aspects of nephropathic cystinosis.

McDowell GA, Town MM, van't Hoff W, Gahl WA. McDowell GA, et al. Among authors: gahl wa. J Mol Med (Berl). 1998 Apr;76(5):295-302. doi: 10.1007/s001090050220. J Mol Med (Berl). 1998. PMID: 9587063 Review.

3

NTBC and alkaptonuria.

Anikster Y, Nyhan WL, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Am J Hum Genet. 1998 Sep;63(3):920-1. doi: 10.1086/302027. Am J Hum Genet. 1998. PMID: 9718357 Free PMC article. No abstract available.

4

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1999. PMID: 10571941 Review.

5

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Hum Genet. 2000 Mar;106(3):370-3. doi: 10.1007/s004390051053. Hum Genet. 2000. PMID: 10798370

6

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.

7

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Thromb Haemost. 2001 Jul;86(1):233-45. Thromb Haemost. 2001. PMID: 11487012 Review.

8

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Anikster Y, et al. Among authors: gahl wa. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 Oct 19. Am J Hum Genet. 2001. PMID: 11668429 Free PMC article.

9

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862

10

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2002 Jul;76(3):201-6. doi: 10.1016/s1096-7192(02)00047-1. Mol Genet Metab. 2002. PMID: 12126933

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