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The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10.
Epilepsia. 2019.
PMID: 30968951
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K.
Weiss K, et al. Among authors: rumple m.
Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7.
Genet Med. 2020.
PMID: 31388190
Free PMC article.
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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K.
Weiss K, et al. Among authors: rumple m.
Genet Med. 2020 Mar;22(3):669. doi: 10.1038/s41436-019-0727-3.
Genet Med. 2020.
PMID: 31844176
Free article.
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CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.
Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ.
Hemmat M, et al. Among authors: rumple mj.
Mol Cytogenet. 2017 Sep 5;10:33. doi: 10.1186/s13039-017-0334-4. eCollection 2017.
Mol Cytogenet. 2017.
PMID: 28878824
Free PMC article.
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Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.
Hemmat M, Rumple MJ, Mahon LW, Strom CM, Anguiano A, Talai M, Nguyen B, Boyar FZ.
Hemmat M, et al. Among authors: rumple mj.
Mol Cytogenet. 2014 Apr 16;7:27. doi: 10.1186/1755-8166-7-27. eCollection 2014.
Mol Cytogenet. 2014.
PMID: 24739087
Free PMC article.
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"IARC Group 2B carcinogens" reported in cigarette mainstream smoke.
Smith CJ, Perfetti TA, Rumple MA, Rodgman A, Doolittle DJ.
Smith CJ, et al. Among authors: rumple ma.
Food Chem Toxicol. 2001 Feb;39(2):183-205. doi: 10.1016/s0278-6915(00)00164-2.
Food Chem Toxicol. 2001.
PMID: 11267712
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Urinary thromboxane, prostacyclin, cortisol, and 8-hydroxy-2'-deoxyguanosine in nonsmokers exposed and not exposed to environmental tobacco smoke.
Smith CJ, Fischer TH, Heavner DL, Rumple MA, Bowman DL, Brown BG, Morton MJ, Doolittle DJ.
Smith CJ, et al. Among authors: rumple ma.
Toxicol Sci. 2001 Feb;59(2):316-23. doi: 10.1093/toxsci/59.2.316.
Toxicol Sci. 2001.
PMID: 11158725
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"IARC group 2A Carcinogens" reported in cigarette mainstream smoke.
Smith CJ, Perfetti TA, Rumple MA, Rodgman A, Doolittle DJ.
Smith CJ, et al. Among authors: rumple ma.
Food Chem Toxicol. 2000 Apr;38(4):371-83. doi: 10.1016/s0278-6915(99)00156-8.
Food Chem Toxicol. 2000.
PMID: 10722891
Review.
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