Gahl WA - Search Results

1

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program; Gahl WA, Gunay-Aygun M. Malicdan MC, et al. Among authors: gahl wa. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18. J Med Genet. 2015. PMID: 26386044 Free PMC article.

2

High-performance liquid chromatography of lipids for the identification of human metabolic disease.

Markello TC, Guo J, Gahl WA. Markello TC, et al. Among authors: gahl wa. Anal Biochem. 1991 Nov 1;198(2):368-74. doi: 10.1016/0003-2697(91)90441-u. Anal Biochem. 1991. PMID: 1799224

3

Molecular cloning of two novel rab genes from human melanocytes.

Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Chen D, et al. Among authors: gahl wa. Gene. 1996 Sep 26;174(1):129-34. doi: 10.1016/0378-1119(96)00509-4. Gene. 1996. PMID: 8863739

4

RAB GTPases expressed in human melanoma cells.

Chen D, Guo J, Gahl WA. Chen D, et al. Among authors: gahl wa. Biochim Biophys Acta. 1997 Jan 10;1355(1):1-6. doi: 10.1016/s0167-4889(96)00169-3. Biochim Biophys Acta. 1997. PMID: 9030196 Free article.

5

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.

Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Chen D, et al. Among authors: gahl wa. Biochem Mol Med. 1997 Feb;60(1):27-37. doi: 10.1006/bmme.1996.2559. Biochem Mol Med. 1997. PMID: 9066979

6

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA. Hazelwood S, et al. Among authors: gahl wa. Am J Med Genet. 1998 Feb 3;75(4):395-400. doi: 10.1002/(sici)1096-8628(19980203)75:4<395::aid-ajmg9>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9482646

7

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Mol Genet Metab. 1998 Jun;64(2):99-107. doi: 10.1006/mgme.1998.2679. Mol Genet Metab. 1998. PMID: 9705234

8

CTNS mutations in an American-based population of cystinosis patients.

Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Am J Hum Genet. 1998 Nov;63(5):1352-62. doi: 10.1086/302118. Am J Hum Genet. 1998. PMID: 9792862 Free PMC article.

9

The metabolism of fatty acids in human Bietti crystalline dystrophy.

Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. Lee J, et al. Among authors: gahl wa. Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1707-14. Invest Ophthalmol Vis Sci. 2001. PMID: 11431432

10

Renal glucosuria due to SGLT2 mutations.

Kleta R, Stuart C, Gill FA, Gahl WA. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2004 May;82(1):56-8. doi: 10.1016/j.ymgme.2004.01.018. Mol Genet Metab. 2004. PMID: 15110322

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