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

Electronic Stethoscope Auscultation and Echocardiography in ARDS: Correlation and Prognostic Value for Mortality and ICU Length of Stay: A Prospective Observational Study

电子听诊器听诊和超声心动图在急性呼吸窘迫综合征中的应用:与死亡率和ICU住院时间的相关性及预后价值:一项前瞻性观察研究

Alevroudis, Ioannis; Kotoulas, Serafeim-Chrysovalantis; Mouratidou, Christina; Karkala, Aliki; Michailidou, Anastasia; Tzimou, Myrto; Synodinos-Kamilos, Spyridon; Giannaki, Chrysavgi; Karachristos, Christos; Lavrentieva, Athina; Maglaveras, Nicos; Kaimakamis, Evangelos

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond

HELIOS行动:推进欧洲及其他地区血红蛋白病的研究、教育和公平。

Chatzimatthaiou, Sotiroula; Bonifazi, Fedele; Gimbert, Anna C; Colombatti, Raffaella; Cremonesi, Francesco; Glenthøj, Andreas; Mezzalira, Elisabetta; Stephanou, Coralea; Traeger-Synodinos, Jan; Antic, Darko; Durmaz, Burak; Gavriilaki, Eleni; Inusa, Baba; Landi, Annalisa; Pellegrini, Mariangela; Basile, Francesca; Muth, Stephanie; Cario, Holger; Katsantoni, Eleni; Ruhluel, Dilem; Lederer, Carsten Werner; Mañú-Pereira, María Del Mar; Kountouris, Petros

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies

利用包含176个基因的1000例外显子组测序数据队列,估算高危夫妇的患病率及其对健康政策的重要性和相关性

Marinakis, Nikolaos M; Tilemis, Faidon-Nikolaos; Veltra, Danai; Svingou, Maria; Sofocleous, Christalena; Kekou, Kyriaki; Kosma, Konstantina; Kampouraki, Afrodite; Kontse, Chrysi; Fylaktou, Irene; Sertedaki, Amalia; Kanaka-Gantenbein, Christina; Traeger-Synodinos, Joanne; Makrythanasis, Periklis

Position Statement and Recommendations for Custom-Made Sport Mouthguards

关于定制运动护齿器的立场声明和建议

Avgerinos, Stavros; Stamos, Athanasios; Nanussi, Alessandro; Engels-Deutsch, Marc; Cantamessa, Sophie; Dartevelle, Jean-Luc; Unamuno, Eider; Del Grosso, Flavia; Fritsch, Tilman; Crouzette, Thierry; Striegel, Markus; Sánchez, Christian Cardozo; Okshah, Abdulmajeed; Tzimpoulas, Nestor; Naka, Olga; Kouveliotis, George; Tzoutzas, Ioannis; Zoidis, Panagiotis; Synodinos, Filippos; Loizos, Evangelos; Tasopoulos, Theodoros; Haughey, John; Rahiotis, Christos

Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing

血红蛋白病患者的生育选择:胚胎植入前遗传学检测的作用

Kakourou, Georgia; Vrettou, Christina; Mamas, Thalia; Traeger-Synodinos, Joanne

Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients

基于分子和临床特征对范可尼贫血症的认识:一项包含13名患者的多中心研究

Saranti, Simoni; Selenti, Nikoletta; Sofocleous, Christalena; Traeger-Synodinos, Joanne; Kattamis, Antonis; Papadakis, Vassilios; Goussetis, Evgenios; Kelaidi, Charikleia; Paisiou, Anna; Polychronopoulou, Sophia; Kossiva, Lydia

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

SUPT5H 功能缺失变异体作为β-地中海贫血的修饰因子

Harteveld, Cornelis L; Achour, Ahlem; Fairuz Mohd Hasan, Nik Fatma; Legebeke, Jelmer; Arkesteijn, Sandra J G; Huurne, Jeanet Ter; Verschuren, Maaike; Bhagwandien-Bisoen, Sharda; Schaap, Rianne; Vijfhuizen, Linda; Idrissi, Hakima El; Babbs, Christian; Higgs, Douglas R; Koopmann, Tamara T; Vrettou, Christina; Traeger-Synodinos, Joanne; Baas, Frank