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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 2
1977 1
1978 2
1979 1
1980 2
1981 1
1982 10
1983 3
1984 3
1985 8
1986 7
1987 11
1988 12
1989 10
1990 7
1991 9
1992 3
1993 15
1994 7
1995 10
1996 6
1997 7
1998 10
1999 8
2000 11
2001 21
2002 13
2003 6
2004 16
2005 17
2006 10
2007 11
2008 9
2009 15
2010 20
2011 32
2012 32
2013 22
2014 24
2015 24
2016 38
2017 54
2018 45
2019 28
2020 30
2021 20
2022 15
2023 19
2024 12

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Publication date

Search Results

623 results

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Page 1
Desperately seeking solutions.
Gahl WA, Perry M. Gahl WA, et al. Genet Med. 2022 Dec;24(12):2419-2421. doi: 10.1016/j.gim.2022.08.018. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36112139 Free article. No abstract available.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L. Baghdassarian H, et al. Among authors: gahl wa. N Engl J Med. 2023 Jun 15;388(24):2241-2252. doi: 10.1056/NEJMoa2202318. Epub 2023 May 31. N Engl J Med. 2023. PMID: 37256972 Free PMC article.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Among authors: gahl wa. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.
Diamond EL, Durham BH, Haroche J, Yao Z, Ma J, Parikh SA, Wang Z, Choi J, Kim E, Cohen-Aubart F, Lee SC, Gao Y, Micol JB, Campbell P, Walsh MP, Sylvester B, Dolgalev I, Aminova O, Heguy A, Zappile P, Nakitandwe J, Ganzel C, Dalton JD, Ellison DW, Estrada-Veras J, Lacouture M, Gahl WA, Stephens PJ, Miller VA, Ross JS, Ali SM, Briggs SR, Fasan O, Block J, Héritier S, Donadieu J, Solit DB, Hyman DM, Baselga J, Janku F, Taylor BS, Park CY, Amoura Z, Dogan A, Emile JF, Rosen N, Gruber TA, Abdel-Wahab O. Diamond EL, et al. Among authors: gahl wa. Cancer Discov. 2016 Feb;6(2):154-65. doi: 10.1158/2159-8290.CD-15-0913. Epub 2015 Nov 13. Cancer Discov. 2016. PMID: 26566875 Free PMC article.
Lysosomal storage diseases.
Ferreira CR, Gahl WA. Ferreira CR, et al. Among authors: gahl wa. Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Transl Sci Rare Dis. 2017. PMID: 29152458 Free PMC article. Review.
MGM and Undiagnosed Diseases.
Gahl WA. Gahl WA. Mol Genet Metab. 2024 Jan;141(1):108125. doi: 10.1016/j.ymgme.2024.108125. Epub 2024 Jan 4. Mol Genet Metab. 2024. PMID: 38184431 No abstract available.
Inherited disorders of lysosomal membrane transporters.
Huizing M, Gahl WA. Huizing M, et al. Among authors: gahl wa. Biochim Biophys Acta Biomembr. 2020 Dec 1;1862(12):183336. doi: 10.1016/j.bbamem.2020.183336. Epub 2020 May 8. Biochim Biophys Acta Biomembr. 2020. PMID: 32389669 Free PMC article. Review.
Disorders of metal metabolism.
Ferreira CR, Gahl WA. Ferreira CR, et al. Among authors: gahl wa. Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015. Transl Sci Rare Dis. 2017. PMID: 29354481 Free PMC article. Review.
Generalized Arterial Calcification of Infancy.
Ziegler SG, Gahl WA, Ferreira CR. Ziegler SG, et al. Among authors: gahl wa. 2014 Nov 13 [updated 2020 Dec 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Nov 13 [updated 2020 Dec 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25392903 Free Books & Documents. Review.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: gahl wa. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
623 results