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

Plasminogen supplementation improves lysis of inflammatory retained traumatic hemothorax

补充纤溶酶原可改善炎症性创伤性血胸的溶解。

Maginot, Elizabeth R; Gawargi, Flobater I; Moore, Ernest E; White, Collin M; Volk, Grace E; Moody, Trace B; Sextro, Kyle S; Hiser, Dylan; Tierney, John F; Sheppard, Olabisi O; Evans, Charity H; Cantrell, Emily; Kamien, Andrew J; Lamb, Gina D; Matos, Miguel; Veatch, Jessica; Cloonan, Maddie R; Chandler, James G; Moore, Hunter B; Moore, Peter K; Sauaia, Angela; Bernhardt, Isabella M; Yaffe, Michael B; Bauman, Zachary M; Henry, Reynold; Barrett, Christopher D

Geometric modeling of knitted fabrics

针织物的几何建模

Niu, Lauren; Dion, Geneviève; Kamien, Randall D

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距:外显子组阴性智力障碍队列的基因组、表观遗传特征、长读长测序和卫生经济学分析

Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Adès, Lesley C; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J; Pérez-Jurado, Luis A; Krzesinski, Emma; Hunter, Matthew F; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W; Cliffe, Corrina; Elakis, George; Kirk, Edwin P; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J; Field, Michael; Sadikovic, Bekim; Buckley, Michael F; O'Donnell-Luria, Anne; Roscioli, Tony

Integrated multi-omics for rapid rare disease diagnosis on a national scale

综合多组学,在全国范围内快速诊断罕见疾病

Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer A

Geometry of focal conics in sessile cholesteric droplets

无轴胆甾相液滴中焦锥的几何形状

Kamien, Randall D; Nastishin, Yuriy; Pansu, Brigitte

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

与双等位基因 SLC30A9 致病变异相关的 Birk-Landau-Perez 综合征患者的临床表型

Steel Dora Batia Dyne, Danti Federica Rachele, Abunada Mohamed, Kamien Benjamin, Malhotra Sony, Topf Maya, Kaliakatsos Marios, Valentine Jane, Nemeth Andrea Hilary, Jayawant Sandeep, Reid Kimberley M, Mankad Kshitij, Sudhakar Sniya, Ben-Pazi Hilla, Barwick Katy, Kurian Manju A

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

BRAT1相关疾病:97例患者的表型谱和表型-基因型相关性

Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

孟德尔遗传病的全外显子组和全基因组测序:诊断和卫生经济学分析

Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony

Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")

澳大利亚生殖遗传携带者筛查项目(“麦肯齐的使命”)的基因选择

Kirk, Edwin P; Ong, Royston; Boggs, Kirsten; Hardy, Tristan; Righetti, Sarah; Kamien, Ben; Roscioli, Tony; Amor, David J; Bakshi, Madhura; Chung, Clara W T; Colley, Alison; Jamieson, Robyn V; Liebelt, Jan; Ma, Alan; Pachter, Nicholas; Rajagopalan, Sulekha; Ravine, Anja; Wilson, Meredith; Caruana, Jade; Casella, Rachael; Davis, Mark; Edwards, Samantha; Archibald, Alison; McGaughran, Julie; Newson, Ainsley J; Laing, Nigel G; Delatycki, Martin B

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

进一步阐明与BCAP31相关的智力障碍:描述17个携带功能缺失和错义变异的新家族

Whalen, Sandra; Shaw, Marie; Mignot, Cyril; Héron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoëlle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renée; Hartley, Jessica N; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent