日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Analysis of Prevalence and Mortality Among Neonates and Children With Intestinal Atresia: A Multinational Study, 1974-2015

1974-2015年新生儿和儿童肠闭锁患病率和死亡率分析:一项多国研究

Carreño, Angie; Aguilera, Maria Paula; Ibañez, Lina; Sarmiento, Karen; Gili, Juan A; Siffel, Csaba; Nembhard, Wendy N; Bergman, Jorieke E H; Bermejo-Sánchez, Eva; Tagliabue, Giovanna; Dastgiri, Saeed; Feldkamp, Marcia L; Pocius, Stephanie; Gatt, Miriam; Martínez, Laura; Canessa, María Aurora; Groisman, Boris; Källén, Karin; Landau, Danielle; Lelong, Nathalie; Morgan, Margery; Arteaga-Vázquez, Jazmín; Santoroi, Michele; Rissmann, Anke; Sipek, Antonin; Szabova, Elena; Wertelecki, Wladimir; Canfield, Mark A; Mastroiacovo, Pierpaolo; Zarante, Ignacio

Diagnosis, treatment, and follow-up of patients with hypophosphatasia

低磷酸酯酶症患者的诊断、治疗和随访

Cárdenas-Aguilera, Juan Guillermo; González-López, Vladimir; Zarante-Bahamón, Ana María; Prieto-Rivera, Juan Carlos; Baquero-Rodríguez, Richard; Chacón-Acevedo, Kelly Rocío; Meza-Martínez, Adriana Isabel; Serrano-Gayubo, Ana Katherina; Medina-Orjuela, Adriana; Cáceres-Mosquera, Jimena Adriana; Guerrero-Tinoco, Gustavo Adolfo; García-Rueda, María Fernanda; Guarnizo-Zuccardi, Pilar; Herrera-Ortiz, Gilberto; Rojas-Barrera, Carolina; Carrascal-Guzmán, Martha Isabel; Reina-Ávila, María Fernanda; Arguinzoniz-Valenzuela, Sletza Lissette; Belmont-Martínez, Leticia; Del-Pino, Mariana; Viterbo, Gisela Lorena; Seijo, Mariana; Calzada-Hernández, Joan; Guerra-Hernández, Norma Elizabeth; Brunetto, Oscar Héctor

Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia

AFG3L2基因双等位基因变异导致痉挛性共济失调5型(SPAX5):哥伦比亚波哥大两例儿科病例报告

Cortés-Rojas, María Camila; Zarante-Bahamón, Ana María; Ramón-Gómez, Jorge Luis

Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities

加强哥伦比亚的医学遗传学和基因组医学:进展、挑战和战略机遇

Rojas, Paola Liliana Páez; Mora, Lina María; Rincón, Juan Sebastián; Montoya, Ignacio Zarante; León-Sanabria, María Camila; Urueña-Serrano, Ana María

Birth Defects and Mortality-Related Factors in Colombia: Insights from a Surveillance Cohort (2002-2019)

哥伦比亚出生缺陷和死亡相关因素:来自监测队列研究(2002-2019 年)的启示

Pineda-Sanabria, Pablo; Portilla-Rojas, Esteban; Arbelaez-Hoyos, Catalina; Baquero-Castro, Valentina; Lores, Juliana; Sarmiento, Karen; Zarante, Ignacio

The Human Phenotype Ontology in 2024: phenotypes around the world

2024 年人类表型本体论:世界各地的表型

Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, Jolana; Callahan, Tiffany J; Cameron, Rhiannon; Carbon, Seth J; Castellanos, Francisco; Caufield, J Harry; Chan, Lauren E; Chute, Christopher G; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon R; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B A; de Vries, Esther; DePaulo, J Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J M; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen V; Freudenberg-Hua, Yun; Fullerton, Janice M; Gabriel, Davera L; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O B; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A; Kraus, Megan L; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L; Martinez-Glez, Victor; McHenry, Toby H; McInnis, Melvin G; McMurry, Julie A; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; Nurnberger, John I Jr; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M; Roy, Suzy; Sanders, Stephan J; Schuetz, Catharina; Schulte, Eva C; Schulze, Thomas G; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N; Simon, Eric S; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L; Smolinsky, Jake T; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A; Tesner, Pavel; Thomas, Rhys H; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E; Vasilevsky, Nicole A; Vlčková, Markéta; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S; Wiafe, Addo A; Wiafe, Samuel A; Wiggins, Lisa D; Williams, Andrew E; Wu, Chen; Wyrwoll, Margot J; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N; Yocum, Anastasia K; Young, Allan H; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N

Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia

哥伦比亚一组被诊断患有低磷酸酯酶症的患者的疼痛、生活质量和综合管理

Rojas Martínez, Jorge Armando; Zarante Bahamón, Ana María; Salazar, Luz Victoria; Morales, Andrés Felipe; Higuera Cristancho, María Fernanda; Villanueva Congote, Juliana; Zarante Montoya, Ignacio; Gómez Espitia, Lina María

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017

来自 24 个国家的 27 个监测项目中腹裂患病率模式,国际出生缺陷监测和研究中心,1980-2017 年

Feldkamp, Marcia L; Canfield, Mark A; Krikov, Sergey; Prieto-Merino, David; Šípek, Antonin Jr; LeLong, Nathalie; Amar, Emmanuelle; Rissmann, Anke; Csaky-Szunyogh, Melinda; Tagliabue, Giovanna; Pierini, Anna; Gatt, Miriam; Bergman, Jorieke E H; Szabova, Elena; Bermejo-Sánchez, Eva; Tucker, David; Dastgiri, Saeed; Bidondo, María Paz; Canessa, Aurora; Zarante, Ignacio; Hurtado-Villa, Paula; Martinez, Laura; Mutchinick, Osvaldo M; Camelo, Jorge Lopez; Benavides-Lara, Adriana; Thomas, Mary Ann; Liu, Shiliang; Nembhard, Wendy N; Gray, Elizabeth B; Nance, Amy E; Mastroiacovo, Pierpaolo; Botto, Lorenzo D

A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy

一项关于新生儿和儿童膀胱外翻患病率和死亡率的多国分析

Kancherla, Vijaya; Tandaki, Lucita; Sundar, Manasvi; Lux, Anke; Bakker, Marian K; Bergman, Jorieke Eh; Bermejo-Sánchez, Eva; Canfield, Mark A; Feldkamp, Marcia L; Groisman, Boris; Hurtado-Villa, Paula; Källén, Karin; Landau, Danielle; Lelong, Nathalie; Lopez-Camelo, Jorge; Mastroiacovo, Pierpaolo; Morgan, Margery; Mutchinick, Osvaldo M; Nance, Amy E; Nembhard, Wendy N; Pierini, Anna; Šípek, Antonin; Stallings, Erin B; Szabova, Elena; Wertelecki, Wladimir; Zarante, Ignacio; Rissmann, Anke

[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients]

KMT2B肌张力障碍的表型和基因型谱:三例哥伦比亚患者的描述

Ramón-Gómez, J L; Bernal-Pacheco, O; Zarante-Bahamón, A M; Martínez-Córdoba, N; Lince-Rivera, I