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Year | Number of Results |
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2023 | 4 |
2024 | 4 |
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Page 1
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.
Am J Med Genet A. 2024 Mar;194(3):e63446. doi: 10.1002/ajmg.a.63446. Epub 2023 Nov 1.
Am J Med Genet A. 2024.
PMID: 37915296
Review.
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk.
Georgakis MK, Malik R, El Bounkari O, Hasbani NR, Li J, Huffman JE, Shakt G, Tack RWP, Kimball TN, Asare Y, Morrison AC, Tsao NL, Judy R, Mitchell BD, Xu H, Montasser ME, Do R, Kenny EE, Loos RJF, Terry JG, Carr JJ, Bis JC, Psaty BM, Longstreth WT, Young KA, Lutz SM, Cho MH, Broome J, Khan AT, Wang FF, Heard-Costa N, Seshadri S, Vasan RS, Palmer ND, Freedman BI, Bowden DW, Yanek LR, Kral BG, Becker LC, Peyser PA, Bielak LF, Ammous F, Carson AP, Hall ME, Raffield LM, Rich SS, Post WS, Tracy RP, Taylor KD, Guo X, Mahaney MC, Curran JE, Blangero J, Clarke SL, Haessler JW, Hu Y, Assimes TL, Kooperberg C, Bernhagen J, Anderson CD, Damrauer SM, Zand R, Rotter JI, de Vries PS, Dichgans M.
Georgakis MK, et al. Among authors: kimball tn.
medRxiv [Preprint]. 2024 Jun 26:2023.08.14.23294063. doi: 10.1101/2023.08.14.23294063.
medRxiv. 2024.
PMID: 37645892
Free PMC article.
Preprint.
Item in Clipboard
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Leal-Anaya P, Kimball TN, Yanez-Felix AL, Fiesco-Roa MÓ, García-de Teresa B, Monsiváis A, Juárez-Velázquez R, Lieberman E, Villarroel C, Yokoyama E, Fernández-Hernández L, Rivera-Osorio A, Sosa D, Ortiz Sandoval MM, López-Santiago N, Frías S, Del Castillo V, Rodríguez A.
Leal-Anaya P, et al. Among authors: kimball tn.
Front Genet. 2024 Jan 24;14:1293929. doi: 10.3389/fgene.2023.1293929. eCollection 2023.
Front Genet. 2024.
PMID: 38327701
Free PMC article.
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Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.
Kimball TN, Rivero-García P, Pérez González B, Reza-Albarrán AA.
Kimball TN, et al.
Clin Case Rep. 2023 Oct 23;11(10):e8028. doi: 10.1002/ccr3.8028. eCollection 2023 Oct.
Clin Case Rep. 2023.
PMID: 37881199
Free PMC article.
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Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.
Rivero-García P, Aguilar-Lugo-Gerez JJ, Kimball TN, Reza-Albarrán AA.
Rivero-García P, et al. Among authors: kimball tn.
JCEM Case Rep. 2023 Jul 14;1(4):luad084. doi: 10.1210/jcemcr/luad084. eCollection 2023 Jul.
JCEM Case Rep. 2023.
PMID: 37908980
Free PMC article.
Item in Clipboard
Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7).
Kimball TN, García-Rueda AG, Rivero-García P, Pérez-Segovia AH, Mayoral-Carrasco LE.
Kimball TN, et al.
Cureus. 2024 Mar 25;16(3):e56914. doi: 10.7759/cureus.56914. eCollection 2024 Mar.
Cureus. 2024.
PMID: 38659533
Free PMC article.
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