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

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

染色体微阵列和外显子组测序在临床诊断中检测到的拷贝数变异具有高度一致性

Birnbaum, Rivka; Slovik, Maya; Zenvirt, Shamir; Livyatan, Ilana; Altman, Israel; Gershon, Shiri; Rips, Jonathan; Daum, Hagit; Rosenbluh, Chaggai; Elpeleg, Orly; Meiner, Vardiella; Frumkin, Ayala; Mor-Shaked, Hagar; Harel, Tamar

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

与神经发育障碍相关的UNC13C单核苷酸变异会影响果蝇的乙醇敏感性

Müller, Franz; Neuser, Sonja; Shrestha, Gaurav; Neupane, Netra P; Götze, Katharina J; Brunetti-Pierri, Nicola; Terrone, Gaetano; Reymond, Alexandre; van Gassen, Koen L; Brilstra, Eva; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Rips, Jonathan; Fahham, Duha; Barakat, Tahsin Stefan; Patat, Olivier; Mortreux, Jérémie; Chau, Matthew Hoi Kin; Rosenfeld, Jill A; Mizerik, Elizabeth; Srivastava, Swati; Luo, Xi; Dahse, Anne-Kristin; Scholz, Nicole; Das, Joydip; Roman, Gregg; Langenhan, Tobias; Abou Jamra, Rami; Mrestani, Achmed; Ljaschenko, Dmitrij

The structure of liquid carbon elucidated by in situ X-ray diffraction

原位X射线衍射阐明液态碳的结构

Kraus, D; Rips, J; Schörner, M; Stevenson, M G; Vorberger, J; Ranjan, D; Lütgert, J; Heuser, B; Eggert, J H; Liermann, H-P; Oleynik, I I; Pandolfi, S; Redmer, R; Sollier, A; Strohm, C; Volz, T J; Albertazzi, B; Ali, S J; Antonelli, L; Bähtz, C; Ball, O B; Banerjee, S; Belonoshko, A B; Bolme, C A; Bouffetier, V; Briggs, R; Buakor, K; Butcher, T; Cerantola, V; Chantel, J; Coleman, A L; Collier, J; Collins, G W; Comley, A J; Cowan, T E; Cristoforetti, G; Cynn, H; Descamps, A; Di Cicco, A; Di Dio Cafiso, S; Dorchies, F; Duff, M J; Dwivedi, A; Edwards, C; Errandonea, D; Galitskiy, S; Galtier, E; Ginestet, H; Gizzi, L; Gleason, A; Göde, S; Gonzalez, J M; Gorman, M G; Harmand, M; Hartley, N J; Heighway, P G; Hernandez-Gomez, C; Higginbotham, A; Höppner, H; Husband, R J; Hutchinson, T M; Hwang, H; Keen, D A; Kim, J; Koester, P; Konôpková, Z; Krygier, A; Labate, L; Laso Garcia, A; Lazicki, A E; Lee, Y; Mason, P; Masruri, M; Massani, B; McBride, E E; McHardy, J D; McGonegle, D; McGuire, C; McWilliams, R S; Merkel, S; Morard, G; Nagler, B; Nakatsutsumi, M; Nguyen-Cong, K; Norton, A-M; Ozaki, N; Otzen, C; Peake, D J; Pelka, A; Pereira, K A; Phillips, J P; Prescher, C; Preston, T R; Randolph, L; Ravasio, A; Santamaria-Perez, D; Savage, D J; Schölmerich, M; Schwinkendorf, J-P; Singh, S; Smith, J; Smith, R F; Spear, J; Spindloe, C; Suer, T-A; Tang, M; Toncian, M; Toncian, T; Tracy, S J; Trapananti, A; Vennari, C E; Vinci, T; Tyldesley, M; Vogel, S C; Walsh, J P S; Wark, J S; Willman, J T; Wollenweber, L; Zastrau, U; Brambrink, E; Appel, K; McMahon, M I

Observation of a mixed close-packed structure in superionic water

超离子水中混合密堆积结构的观察

Andriambariarijaona, L; Stevenson, M G; Bethkenhagen, M; Lecherbourg, L; Lefèvre, F; Vinci, T; Appel, K; Baehtz, C; Benuzzi-Mounaix, A; Bergermann, A; Bespalov, D; Brambrink, E; Cowan, T E; Cunningham, E; Descamps, A; Cafiso, S Di Dio; Dyer, G; Fletcher, L B; French, M; Frost, M; Galtier, E; Gleason, A E; Glenzer, S H; Glenn, G D; Guarnelli, Y; Hartley, N J; He, Z; Herbert, M-L; Hernandez, J-A; Heuser, B; Höppner, H; Humphries, O S; Husband, R; Khaghani, D; Konôpková, Z; Kuhlke, J; Garcia, A Laso; Lee, H J; Lindqvist, B; Lütgert, J; Lynn, W; Masruri, M; May, P; McBride, E E; Nagler, B; Nakatsutsumi, M; Naedler, J-P; Ofori-Okai, B K; Pandolfi, S; Pelka, A; Preston, T R; Qu, C; Randolph, L; Ranjan, D; Redmer, R; Rips, J; Schoenwaelder, C; Schumacher, S; Schuster, A K; Schwinkendorf, J-P; Strohm, C; Tang, M; Toncian, T; Voigt, K; Vorberger, J; Zastrau, U; Kraus, D; Ravasio, A

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Early ventricular tachyarrhythmia after myocardial infarction in patients using a wearable cardioverter defibrillator

使用可穿戴式心脏复律除颤器的患者发生心肌梗死后早期室性心律失常

Rips, Johannes; El-Battrawy, Ibrahim; Basha, Mustafa Mousa; Lapp, Hendrik; Zietzer, Andreas; Knappe, Vincent; Funken, Maximilian; Gestrich, Christopher; Kratz, Tobias; Wloch, Leonie; Koepsel, Katharina; Klein, Norbert; Kuntz, Thomas; Mügge, Andreas; Aweimer, Assem; Weth, Christian; Custodis, Florian; Schehab, Wasim; Hoffmann, Luisa Marie; Abumayyaleh, Mohammad; Akin, Ibrahim; Hamdani, Nazha; Nickenig, Georg; Beiert, Thomas

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

常染色体显性遗传性肾脏低镁血症中的新型RRAGD变异及其治疗前景

Adella, Anastasia; Jouret, François; Madariaga, Leire; Leermakers, Pieter A; Arango, Pedro; Ariceta, Gema; Beck, Bodo B; Bjerre, Anna; Bockenhauer, Detlef; Coccia, Paula; Dhamija, Radhika; de Frutos, Fernando; Garcia-Castano, Alejandro; van Katwijk, Sara B; Lucas, Jesus; Möller, Thomas; Müller, Dominik; Pinto E Vairo, Filippo; Raki, Melinda; Rips, Jonathan; Schlingmann, Karl Peter; Venselaar, Hanka; Machado Bressan Wilke, Matheus Vernet; Nijenhuis, Tom; Hoenderop, Joost; de Baaij, Jeroen

Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder.

神经发育障碍患者表观遗传调控因子 PHF20 的纯合缺失。

Dagan Shira Yanovsky, Xuan Hongwen, Rips Jonathan, Paz-Ebstein Emuna, Baer Talia, Gross Shira, Frumkin Ayala, Shi Xiaobing, Harel Tamar

Lethal acantholytic epidermolysis bullosa- a report on the prenatal phenotype of two cases and a review of antenatal sonographic signs of congenital denuding skin diseases

致死性棘层松解性大疱性表皮松解症——两例产前表型报告及先天性剥脱性皮肤病产前超声征象回顾

Lehavi, Maya; Daum, Hagit; Hacohen, Nuphar; Gur, Michal; Rips, Jonathan; Salah, Somaya; Ofek-Shlomai, Noa; Porat, Shay