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Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27.
Am J Med Genet A. 2020.
PMID: 32985117
Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.
Kruszka P, et al. Among authors: lotz esquivel s.
Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.
Am J Med Genet A. 2018.
PMID: 29681090
Free PMC article.
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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann M, Lotz-Esquivel S, Chavez Carrera A, Jiménez-Hernández M, Alvarado-Romero D, Segura-Cordero S, Rimolo-Donadio F, Hevia-Urrutia F, Mora-Guevara A, Saborío-Rocafort M, Jiménez-Arguedas G, Badilla-Porras R.
Penon-Portmann M, et al. Among authors: lotz esquivel s.
JIMD Rep. 2020 Feb 6;52(1):55-62. doi: 10.1002/jmd2.12098. eCollection 2020 Mar.
JIMD Rep. 2020.
PMID: 32154060
Free PMC article.
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Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M, Westbury SK, Li L, Pluthero FG, Liu RJY, Yao HHY, Geng RSQ, Warner N, Muise AM, Lotz-Esquivel S, Howell-Ramirez M, Saborío-Chacon P, Fernández-Rojas S, Saborio-Rocafort M, Jiménez-Hernández M, Wang-Zuniga C, Cartín-Sánchez W, Shieh JT, Badilla-Porras R, Kahr WHA.
Penon-Portmann M, et al. Among authors: lotz esquivel s.
J Thromb Haemost. 2022 Jul;20(7):1712-1719. doi: 10.1111/jth.15711. Epub 2022 Apr 12.
J Thromb Haemost. 2022.
PMID: 35325493
Free article.
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[Clinical profile of patients with chronic urticaria in a tertiary care hospital of the social security system in Costa Ricas].
Sedó-Mejía G, Lotz-Esquivel S, Monge-Ortega OP, Pino-García C.
Sedó-Mejía G, et al. Among authors: lotz esquivel s.
Rev Alerg Mex. 2021 Oct-Dec;68(4):225-232. doi: 10.29262/ram.v68i4.881.
Rev Alerg Mex. 2021.
PMID: 34904558
Spanish.
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