Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

995 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Cover Image, Volume 173A, Number 12, December 2017.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: snow j. Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548. Am J Med Genet A. 2017. PMID: 29136352
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: snow j. Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20. Am J Med Genet A. 2017. PMID: 29052317 Free PMC article.
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Vilboux T, Gahl WA, Gunay-Aygun M. Summers AC, et al. Among authors: snow j. Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28497568 Free PMC article.
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: snow j. 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.
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: snow j. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Cullinane AR, Vilboux T, Gahl WA, Gunay-Aygun M. Poretti A, et al. Among authors: snow j. J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13. J Med Genet. 2017. PMID: 28087721
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Shchelochkov OA, Manoli I, Juneau P, Sloan JL, Ferry S, Myles J, Schoenfeld M, Pass A, McCoy S, Van Ryzin C, Wenger O, Levin M, Zein W, Huryn L, Snow J, Chlebowski C, Thurm A, Kopp JB, Chen KY, Venditti CP. Shchelochkov OA, et al. Among authors: snow j. Genet Med. 2021 Aug;23(8):1534-1542. doi: 10.1038/s41436-021-01173-2. Epub 2021 May 18. Genet Med. 2021. PMID: 34007002 Free PMC article.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: snow j. Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622. Neurology. 2017. PMID: 28193763 Free PMC article.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew NA, Shchelochkov OA, Chen KY, Venditti CP. Manoli I, et al. Among authors: snow j. Genet Med. 2021 Aug;23(8):1522-1533. doi: 10.1038/s41436-021-01143-8. Epub 2021 Apr 5. Genet Med. 2021. PMID: 33820958 Free PMC article.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew NA, Shchelochkov OA, Chen KY, Venditti CP. Manoli I, et al. Among authors: snow j. Genet Med. 2021 Nov;23(11):2233. doi: 10.1038/s41436-021-01188-9. Genet Med. 2021. PMID: 33972722 Free PMC article. No abstract available.
995 results