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

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling

1型神经纤维瘤病胚胎植入前遗传学检测:分子遗传学方面及其对生育咨询的影响

Vernimmen, V; De Rycke, M; Moutou, C; Dreesen, J; Blok, M J; van Minkelen, R; Lauer-Zillhardt, J; Verdyck, P; Keymolen, K; van Uum, C; Homminga, I; Brandts, L; Stumpel, C T R M; Coonen, E; Heijligers, M; van Zelst-Stams, W; Zamani Esteki, M; van den Wijngaard, A; de Die-Smulders, C E M; Paulussen, A D C

Nanostructured Ni-Based Alloys as Electroactive Porous Transport Layers for Anion-Exchange Membrane Water Electrolysis

纳米结构镍基合金作为阴离子交换膜水电解的电活性多孔传输层

Ranade, Ameya; Bera, Susanta; Mathayan, Vairavel; Timmer, Remco H M; Vernimmen, Jordy W M; Zoethout, Erwin; van Eck, Hans J N; Tsampas, Mihalis N

Formation of hot spots and arc ignition on tungsten with nano-tendril bundles under high-density hydrogen plasma exposure

在高密度氢等离子体作用下,纳米卷须束钨上热点的形成和电弧的点燃

Hwangbo, Dogyun; Feng, Shuangyuan; Kajita, Shin; Tanaka, Hirohiko; Zhang, Rongshi; Hayashi, Yuki; Morbey, Maria; Timmer, Remco; Vernimmen, Jordy; Scholten, John; Morgan, Thomas

Large range sizes link fast life histories with high species richness across wet tropical tree floras

较大的分布范围将快速的生命周期与湿润热带树木区系中较高的物种丰富度联系起来。

Baker, Timothy R; Adu-Bredu, Stephen; Affum-Baffoe, Kofi; Aiba, Shin-Ichiro; Akite, Perpetra; Alexiades, Miguel; Almeida, Everton; de Oliveira, Edmar Almeida; Davila, Esteban Alvarez; Amani, Christian; Andrade, Ana; Aragao, Luiz; Araujo-Murakami, Alejandro; Arets, Eric; Arroyo, Luzmila; Ashton, Peter; Ifo, Suspense A Averti; Aymard, Gerardo A C; Baisie, Michel; Balee, William; Balinga, Michael; Banin, Lindsay F; Banki, Olaf; Baraloto, Christopher; Barroso, Jorcely; Bastin, Jean-Francois; Beeckman, Hans; Begne, Serge; Bengone, Natacha Nssi; Berry, Nicholas; Betian, Wemo; Bezard, Vincent; Blanc, Lilian; Boeckx, Pascal; Bonal, Damien; Bongers, Frans; Brearley, Francis Q; Brienen, Roel; Brown, Foster; Nasaradin, Musalmah Bt; Burban, Benoit; Burslem, David F R P; Camargo, Plinio; Camargo, Jose Luis; Castro, Wendeson; Ceron, Carlos; Moscoso, Victor Chama; Chapman, Colin; Chave, Jerome; Chezeaux, Eric; Collins, Murray; Comiskey, James; Coomes, David; Valverde, Fernando Cornejo; Costa, Flavia R C; Cuni-Sanchez, Aida; da Costa, Lola; Daly, Douglas C; Dančák, Martin; Daniels, Armandu; Dargie, Greta; Davies, Stuart; De Canniere, Charles; de Haulleville, Thales; Del Aguila Pasquel, Jhon; Derroire, Geraldine; Dexter, Kyle G; Di Fiore, Anthony; Djuikouo, Marie-Noel K; Doucet, Jean-Louis; Droissart, Vincent; Eilu, Gerald; Emillio, Thaise; Engel, Julien; Enock, Bocko Yannick; Ondo, Fidele Evouna; Ewango, Corneille; Fauset, Sophie; Feldpausch, Ted R; Fitriadi, Muhammad; Llampazo, Gerardo Flores; Foli, Ernest G; Fredriksson, Gabriella; Galbraith, David R; Gilpin, Martin; Gloor, Emanuel; Gonmadje, Christelle; Villaroel, Rene Guillen; Hall, Jefferson; Hamer, Keith C; Hamilton, Alan; Hardy, Olivier; Hart, Terese; Hédl, Radim; Herrera, Rafael; Higuchi, Niro; Hladik, Claude Marcel; Coronado, Eurídice Honorio; Huamantupa-Chuquimaco, Isau; Huasco, Walter Huaraca; Hubau, Wannes; Idhamsyah, Muhammad; Ismail, Sascha A; Jeffery, Kath; Jimenez, Eliana; Jucker, Tommaso; Kearsley, Elizabeth; Kho, Lip Khoon; Killeen, Timothy; Kitayama, Kanehiro; Laurance, William; Laurance, Susan; Leal, Miguel; Lewis, Simon L; Lhota, Stanislav; Lindsell, Jeremy; Lopez-Gonzalez, Gabriela; Lovett, Jon; Lowe, Richard; Magnusson, William E; Makana, Jean-Remy; Malhi, Yadvinder; Marimon, Beatriz; Junior, Ben Hur Marimon; Marshall, Andrew; Maycock, Colin; Mbayu, Faustin; Mendoza, Casimiro; Polo, Irina Mendoza; Metali, Faizah; Mihindou, Vianet; Monteagudo-Mendoza, Abel; Moore, Sam; Mucunguzi, Patrick; Mukinzi, Jacques; Munishi, Pantaleo; Nagy, Laszlo; Naisso, Petrus; Neill, David; Lima, Adriano Nogueira; Vargas, Percy Nunez; Ojo, Lucas; Palacios, Walter; Camacho, Nadir Pallqui; Gutierrez, Alexander Parada; Peacock, Julie; Peh, Kelvin S-H; Cruz, Antonio Pena; Pendry, Colin; Pennington, Toby; Penuela-Mora, Maria Cristina; Petronelli, Pascal; Phillips, Oliver L; Pickavance, Georgia; Pipoly, G John; Pitman, Nigel; Poulsen, Axel Dalberg; Prance, Ghillean T; Prieto, Adriana; Primack, Richard B; Qie, Lan; Queenborough, Simon A; Sunderland, Terry; Quesada, Carlos; Arevalo, Freddy Ramirez; Ramirez-Angulo, Hirma; Reitsma, Jan; Réjou-Méchain, Maxime; Roopsind, Anand; Rovero, Francesco; Rutishauser, Ervan; Salim, Kamariah Abu; Salomao, Rafael; Samsoedin, Ismayadi; Saparudin, Muhd Shahruney; Schietti, Juliana; Segovia, Ricardo A; Serrano, Julio; Serudia, Rafizah; Sheil, Douglas; Silva, Natalino; Espejo, Javier Silva; Silveira, Marcos; Simo-Droissart, Murielle; Singh, James; Sonké, Bonaventure; De Sousa, Thaise Emilio Lopes; Stropp, Juliana; Sukri, Rahayu; Sunderland, Terry; Svátek, Martin; Swaine, Michael; Taedoumg, Hermann; Talbot, Joey; Tan, Sylvester; Taplin, James; Taylor, David; Ter Steege, Hans; Terborgh, John; Torres-Lezama, Armando; Mukendi, John Tshibamba; Tuagben, Darlington; van de Meer, Peter; van der Heijden, Geertje; van der Hout, Peter; van Nieuwstadt, Mark; van Ulft, Bert; Martinez, Rodolfo Vasquez; Vernimmen, Ronald; Vinceti, Barbara; Vieira, Simone; Vieira, Ima Celia Guimaries; Torre, Emilio Vilanova; Vleminckx, Jason; White, Lee; Willcock, Simon; Williams, Mathew; Woods, John T; Yao, Tze Leong; Yassir, Ishak; Zagt, Roderick; Zemagho, Lise

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

Transcriptomic characterisation of acute myeloid leukemia cell lines bearing the same t(9;11) driver mutation reveals different molecular signatures.

对携带相同 t(9;11) 驱动突变的急性髓系白血病细胞系进行转录组学表征,揭示了不同的分子特征

Georges Elise, Ho William, Iturritza Miren Urrutia, Eory Lel, Malysz Kamila, Sobhiafshar Ulduz, Archibald Alan L, Macqueen Daniel J, Shih Barbara, Garrick David, Vernimmen Douglas

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C基因的致病变异会导致一种不同于克利夫斯特拉综合征和歌舞伎综合征的神经发育障碍。

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J M; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M A van; Kroes, Hester Y; Stumpel, Constance T R M; Ockeloen, Charlotte W; Diets, Illja J; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E; Vera, Moin; Shen, Joseph J; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N; Giltay, Jacques C; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; Vries, Bert B A de; Motter, Constance S; Mendelsohn, Bryce A; Coffino, Samantha; Gerkes, Erica H; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J; Rutten, Julie W; Caluseriu, Oana; Vernon, Hilary J; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M E; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G P; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Benefits of tropical peatland rewetting for subsidence reduction and forest regrowth: results from a large-scale restoration trial

热带泥炭地重新湿润对减少地面沉降和促进森林再生具有益处:一项大规模修复试验的结果

Hooijer, A; Vernimmen, R; Mulyadi, D; Triantomo, V; Hamdani; Lampela, M; Agusti, R; Page, S E; Doloksaribu, J; Setiawan, I; Suratmanto, B; Swarup, S

Ten-year association between change in speech-in-noise recognition and falls due to balance problems: a longitudinal cohort study

语音噪声识别能力变化与平衡问题导致的跌倒之间的十年关联:一项纵向队列研究

Jansen, Lotte A; van Wier, Marieke F; Vernimmen, Freek P J; Goderie, Thadé; van de Berg, Raymond; Lemke, Ulrike; Lissenberg-Witte, Birgit I; Kramer, Sophia E

Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study

外源性 IL-37 对携带潜在 IL37 功能丧失变体患者的免疫细胞的影响:案例研究

Lisa U Teufel, Caspar I van der Made, Viola Klück, Annet Simons, Alexander Hoischen, Vivian Vernimmen, Leo A B Joosten, Rob J W Arts