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Year | Number of Results |
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2017 | 2 |
2018 | 2 |
2020 | 1 |
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Page 1
Lung Epithelium Releases Growth Differentiation Factor 15 in Response to Pathogen-mediated Injury.
Am J Respir Cell Mol Biol. 2024 Feb 1. doi: 10.1165/rcmb.2023-0429OC. Online ahead of print.
Am J Respir Cell Mol Biol. 2024.
PMID: 38301257
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. Among authors: tolman nj.
Respir Res. 2022 May 4;23(1):112. doi: 10.1186/s12931-022-02002-z.
Respir Res. 2022.
PMID: 35509004
Free PMC article.
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Identification of regulators of poly-ADP-ribose polymerase inhibitor response through complementary CRISPR knockout and activation screens.
Clements KE, Schleicher EM, Thakar T, Hale A, Dhoonmoon A, Tolman NJ, Sharma A, Liang X, Imamura Kawasawa Y, Nicolae CM, Wang HG, De S, Moldovan GL.
Clements KE, et al. Among authors: tolman nj.
Nat Commun. 2020 Nov 30;11(1):6118. doi: 10.1038/s41467-020-19961-w.
Nat Commun. 2020.
PMID: 33257658
Free PMC article.
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC.
Stephen J, et al. Among authors: tolman nj.
PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017.
PLoS One. 2017.
PMID: 28296950
Free PMC article.
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.
Stephen J, et al. Among authors: tolman nj.
Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.
Am J Hum Genet. 2018.
PMID: 30526868
Free PMC article.
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Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR.
Bryan MM, et al. Among authors: tolman nj.
Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.
Mol Genet Metab. 2017.
PMID: 28259707
Free PMC article.
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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. Among authors: tolman nj.
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.
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