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

Year Number of Results
1993 3
2000 1
2002 2
2003 1
2008 1
2009 1
2011 3
2012 1
2013 2
2014 1
2015 1
2016 4
2017 5
2018 3
2019 6
2020 5
2021 2
2022 3
2023 9
2024 3

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43 results

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Page 1
Chediak-Higashi syndrome.
Talbert ML, Malicdan MCV, Introne WJ. Talbert ML, et al. Among authors: introne wj. Curr Opin Hematol. 2023 Jul 1;30(4):144-151. doi: 10.1097/MOH.0000000000000766. Epub 2023 Apr 25. Curr Opin Hematol. 2023. PMID: 37254856 Review.
Health Supervision for Children and Adolescents With Down Syndrome.
Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Bull MJ, et al. Among authors: introne wj. Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. Pediatrics. 2022. PMID: 35490285 No abstract available.
Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA. Introne WJ, et al. 2000 Jul 24 [updated 2023 May 25]. 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. 2000 Jul 24 [updated 2023 May 25]. 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: 20301464 Free Books & Documents. Review.
Alkaptonuria.
Bernardini G, Braconi D, Zatkova A, Sireau N, Kujawa MJ, Introne WJ, Spiga O, Geminiani M, Gallagher JA, Ranganath LR, Santucci A. Bernardini G, et al. Among authors: introne wj. Nat Rev Dis Primers. 2024 Mar 7;10(1):16. doi: 10.1038/s41572-024-00498-x. Nat Rev Dis Primers. 2024. PMID: 38453957 Review.
Alkaptonuria.
Introne WJ, Perry M, Chen M. Introne WJ, et al. 2003 May 9 [updated 2021 Jun 10]. 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. 2003 May 9 [updated 2021 Jun 10]. 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: 20301627 Free Books & Documents. Review.
Chediak-Higashi Syndrome.
Toro C, Morimoto M, Malicdan MC, Adams DR, Introne WJ. Toro C, et al. Among authors: introne wj. 2009 Mar 3 [updated 2023 Dec 21]. 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. 2009 Mar 3 [updated 2023 Dec 21]. 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: 20301751 Free Books & Documents. Review.
Aortic distensibility in alkaptonuria.
Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY. Thimmapuram R, et al. Among authors: introne wj. Mol Genet Metab. 2020 Aug;130(4):289-296. doi: 10.1016/j.ymgme.2020.05.006. Epub 2020 May 18. Mol Genet Metab. 2020. PMID: 32466960
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Morimoto M, et al. Among authors: introne wj. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8. NPJ Genom Med. 2023. PMID: 36765070 Free PMC article.
The neuropsychological phenotype of Chediak-Higashi disease.
Shirazi TN, Snow J, Ham L, Raglan GB, Wiggs EA, Summers AC, Toro C, Introne WJ. Shirazi TN, et al. Among authors: introne wj. Orphanet J Rare Dis. 2019 May 6;14(1):101. doi: 10.1186/s13023-019-1049-x. Orphanet J Rare Dis. 2019. PMID: 31060595 Free PMC article.
43 results