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

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因。

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes

作者更正:外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Support Needs of Parents of Children With Congenital Anomalies Across Europe: A EUROlinkCAT Survey

欧洲先天性异常儿童父母的支持需求:EUROlinkCAT调查

Marcus, Elena; Latos-Bielenska, Anna; Jamry-Dziurla, Anna; Barišić, Ingeborg; Cavero-Carbonell, Clara; Den Hond, Elly; Garne, Ester; Genard, Lucas; Santos, Ana João; Lutke, L Renée; Dias, Carlos Matias; Páramo-Rodríguez, Lucía; Pedersen, Christina Neergaard; Neville, Amanda J; Niemann, Annika; Odak, Ljubica; Pierini, Anna; Rissmann, Anke; Rankin, Judith; Morris, Joan K

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

罕见单核苷酸变异和拷贝数变异与先天性梗阻性尿路疾病的病因:对基因诊断的启示

Ahram, Dina F; Lim, Tze Y; Ke, Juntao; Jin, Gina; Verbitsky, Miguel; Bodria, Monica; Kil, Byum Hee; Chatterjee, Debanjana; Piva, Stacy E; Marasa, Maddalena; Zhang, Jun Y; Cocchi, Enrico; Caridi, Gianluca; Gucev, Zoran; Lozanovski, Vladimir J; Pisani, Isabella; Izzi, Claudia; Savoldi, Gianfranco; Gnutti, Barbara; Capone, Valentina P; Morello, William; Guarino, Stefano; Esposito, Pasquale; Lambert, Sarah; Radhakrishnan, Jai; Appel, Gerald B; Uy, Natalie S; Rao, Maya K; Canetta, Pietro A; Bomback, Andrew S; Nestor, Jordan G; Hays, Thomas; Cohen, David J; Finale, Carolina; Wijk, Joanna A E van; La Scola, Claudio; Baraldi, Olga; Tondolo, Francesco; Di Renzo, Dacia; Jamry-Dziurla, Anna; Pezzutto, Alessandro; Manca, Valeria; Mitrotti, Adele; Santoro, Domenico; Conti, Giovanni; Martino, Marida; Giordano, Mario; Gesualdo, Loreto; Zibar, Lada; Masnata, Giuseppe; Bonomini, Mario; Alberti, Daniele; La Manna, Gaetano; Caliskan, Yasar; Ranghino, Andrea; Marzuillo, Pierluigi; Kiryluk, Krzysztof; Krzemień, Grażyna; Miklaszewska, Monika; Lin, Fangming; Montini, Giovanni; Scolari, Francesco; Fiaccadori, Enrico; Arapović, Adela; Saraga, Marijan; McKiernan, James; Alam, Shumyle; Zaniew, Marcin; Szczepańska, Maria; Szmigielska, Agnieszka; Sikora, Przemysław; Drożdż, Dorota; Mizerska-Wasiak, Malgorzata; Mane, Shrikant; Lifton, Richard P; Tasic, Velibor; Latos-Bielenska, Anna; Gharavi, Ali G; Ghiggeri, Gian Marco; Materna-Kiryluk, Anna; Westland, Rik; Sanna-Cherchi, Simone

Accuracy of congenital anomaly coding in live birth children recorded in European health care databases, a EUROlinkCAT study

欧洲医疗保健数据库中记录的活产儿先天性异常编码的准确性:一项EUROlinkCAT研究

Bakker, Marian K; Loane, Maria; Garne, Ester; Ballardini, Elisa; Cavero-Carbonell, Clara; García, Laura; Gissler, Mika; Given, Joanne; Heino, Anna; Jamry-Dziurla, Anna; Jordan, Sue; Urhoj, Stine Kjaer; Latos-Bieleńska, Anna; Limb, Elisabeth; Lutke, Renee; Neville, Amanda J; Pierini, Anna; Santoro, Michele; Scanlon, Ieuan; Tan, Joachim; Wellesley, Diana; de Walle, Hermien E K; Morris, Joan K

COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services

COVID-19 与先天性异常儿童:一项关于家长医疗保健服务体验的欧洲调查

Seidl-Mlczoch, E; Kasprian, G; Ba-Ssalamah, A; Stuempflen, M; Kitzmueller, E; Muin, D A; Zimpfer, D; Prayer, D; Michel-Behnke, I; Ulm, B; Latos-Bieleńska, Anna; Marcus, Elena; Jamry-Dziurla, Anna; Rankin, Judith; Barisic, Ingeborg; Cavero- Carbonell, Clara; Den Hond, Elly; Garne, Ester; Genard, Lucas; João Santos, Ana; Lutke, L Renée; Matias Dias, Carlos; Neergaard Pedersen, Christina; Neville, Amanda; Niemann, Annika; Odak, Ljubica; Páramo-Rodríguez, Lucía; Pierini, Anna; Rissmann, Anke; Morris, Joan K

Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey

欧洲先天性异常儿童家长的信息需求:EUROlinkCAT调查

Marcus, Elena; Latos-Bielenska, Anna; Jamry-Dziurla, Anna; Barišić, Ingeborg; Cavero-Carbonell, Clara; Den Hond, Elly; Garne, Ester; Genard, Lucas; Santos, Ana João; Lutke, LRenée; Matias Dias, Carlos; Neergaard Pedersen, Christina; Neville, Amanda J; Niemann, Annika; Odak, Ljubica; Pierini, Anna; Rico, Juan; Rissmann, Anke; Rankin, Judith; Morris, Joan K

The prognostic value of serum and urine amylase levels and blood count parameters in assessing the risk of post-endoscopic pancreatitis development

血清和尿液淀粉酶水平以及血细胞计数参数在评估内镜术后胰腺炎发生风险中的预后价值

Jamry, Andrzej

The Voice of Parents of Children With a Congenital Anomaly - A EUROlinkCAT Study

先天性异常儿童父母的心声——EUROlinkCAT 研究

Holm, Kristina Garne; Neville, Amanda Julie; Pierini, Anna; Latos Bielenska, Anna; Jamry-Dziurla, Anna; Cavero-Carbonell, Clara; Garne, Ester; Clemensen, Jane

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study

利用 ConnectEpeople 探索唐氏综合征、唇裂(伴或不伴腭裂)、先天性心脏缺陷或脊柱裂患儿父母的研究重点:一项社交媒体合作研究

Sinclair, Marlene; McCullough, Julie Em; Elliott, David; Latos-Bielenska, Anna; Braz, Paula; Cavero-Carbonell, Clara; Jamry-Dziurla, Anna; João Santos, Ana; Páramo-Rodríguez, Lucía