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

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

INTU双等位基因变异定义了一种纤毛病,其特征是口面部、手指和心脏异常。

Rushforth, Rebekah; Reynolds, Kurt; Estes, Steven I; Nolan, Daniel K; Mori, Mari; Koboldt, Daniel C; Hunter, Jesse M; Stottmann, Rolf W

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

FBXO22 缺陷是一种多效性综合征,表现为生长受限和多系统异常,并伴有独特的表观遗传特征。

Ramakrishna, Navin B; Mohamad Sahari, Umar Bin; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordoñez, Natalia; Ferreira, Mariana; Pinto Basto, Jorge; Alkuraya, Fowzan S; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A M; Al Shamsi, Aisha; ElGhazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W; Said Al-Kindi, Said Ahmed; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoğlu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R; Bertoli-Avella, Aida M; Reversade, Bruno; Abou Tayoun, Ahmad

Effect of Dietary Sodium Nitrite Supplementation on Spontaneous Intracerebral Hemorrhage in Stroke-Prone Spontaneously Hypertensive Rats

膳食补充亚硝酸钠对易卒中自发性高血压大鼠自发性脑出血的影响

Ran, Shang; Kono, Yuka; Sonoda, Kunihiro; Kitamori, Kazuya; Ohtake, Kazuo; Mori, Mari; Kurtz, Theodore W; Yamori, Yukio; Kobayashi, Jun; Nakayama, Hinako; Fukuoka, Taketo; Kawai, Yuki; Tago, Haruka; Watanabe, Nobuhisa; Sato, Ikumi; Yamamoto, Shusei; Hirohata, Satoshi; Watanabe, Shogo

Reliability and utility of blood glucose levels in the periodontal pockets of patients with type 2 diabetes mellitus: a cross-sectional study

2型糖尿病患者牙周袋内血糖水平的可靠性和实用性:一项横断面研究

Terada, Yutaka; Watanabe, Hiroyuki; Mori, Mari; Tomino, Kotoko; Yamamoto, Masaya; Moriya, Mitsuru; Tsuji, Masahiro; Furuichi, Yasushi; Kawakami, Tomofumi; Nagasawa, Toshiyuki

Relationship between Regional Distribution of Centenarians and Drinking Water Hardness in the Amami Islands, Kagoshima Prefecture, Japan

日本鹿儿岛县奄美群岛百岁老人区域分布与饮用水硬度的关系

Suzuki, Mai; Wu, Siyuan; Ootawa, Tomoki; Smith, Henry; Shiraishi, Mitsuya; Miyamoto, Atsushi; Matsuoka, Yuki; Sawa, Sawako; Mori, Mari; Mori, Hideki; Yamori, Yukio

Thrombocytopenia and insufficient thrombopoietin production in human small-for-gestational-age infants.

人类小于胎龄儿的血小板减少症和血小板生成素生成不足

Takeshita Satoru, Kakita Hiroki, Asai Shimpei, Asai Takafumi, Mori Mari, Ueda Hiroko, Aoki Hiromasa, Aoyama Mineyoshi, Yamada Yasumasa

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure

由MECOM相关骨髓衰竭引起的围产期致死性非免疫性胎儿水肿

Dash, Camille A; Madden, Jill A; Cummings, Christy; Rose, Melissa; Wilson, Sheria D; Mori, Mari; Agrawal, Pankaj B; Chaudhari, Bimal P; Wojcik, Monica H

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

22名智力障碍男性患者的MED12错义变异:从非特异性症状到完全综合征

Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L M; Keski-Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Chhouk, Brian H; Yeh, Rebecca C; Neil, Jennifer E; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M; de Brouwer, Arjan P M

Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report

托伐普坦治疗伴有全前脑畸形的抗利尿激素分泌异常综合征患儿的疗效:病例报告

Mori, Mari; Takeshita, Satoru; Nakamura, Nami; Mizuno, Yuki; Tomita, Akiko; Aoyama, Mineyoshi; Kakita, Hiroki; Yamada, Yasumasa