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2018 2
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2022 2
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Page 1
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Abudi-Sinreich S, Bodine SP, Yokoyama T, Tolman NJ, Tyrlik M, Testa LC, Han CG, Dorward HM, Wincovitch SM, Anikster Y, Gahl WA, Cinar R, Gochuico BR, Malicdan MCV. Abudi-Sinreich S, et al. Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z. Respir Res. 2022. PMID: 35509004 Free PMC article.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Yarnell DS, Roney JC, Teixeira C, Freitas MI, Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ. Yarnell DS, et al. Am J Med Genet A. 2020 Dec;182(12):3007-3013. doi: 10.1002/ajmg.a.61886. Epub 2020 Sep 29. Am J Med Genet A. 2020. PMID: 32990340
Noonan syndrome on the African Continent.
Tekendo-Ngongang C, Kruszka P. Tekendo-Ngongang C, et al. Birth Defects Res. 2020 Jun;112(10):718-724. doi: 10.1002/bdr2.1675. Birth Defects Res. 2020. PMID: 32558383 Review.
Introduction.
Kruszka P, Solomon BD, Muenke M. Kruszka P, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):113-116. doi: 10.1002/ajmg.c.31626. Am J Med Genet C Semin Med Genet. 2018. PMID: 30182443 No abstract available.
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Stephen J, et al. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. Hum Genet. 2018. PMID: 29691655 Free PMC article.