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

6556 Does Autoimmune Hashimoto’s Hypothyroidism Mask the Diagnosis of Ehlers-Danlos-Syndrome?

6556 自身免疫性桥本甲状腺功能减退症是否会掩盖埃勒斯-当洛斯综合征的诊断?

De Mori, Roberta; Severino, Mariasavina; Mancardi, Maria Margherita; Anello, Danila; Tardivo, Silvia; Biagini, Tommaso; Capra, Valeria; Casella, Antonella; Cereda, Cristina; Copeland, Brett R; Gagliardi, Stella; Gamucci, Alessandra; Ginevrino, Monia; Illi, Barbara; Lorefice, Elisa; Musaev, Damir; Stanley, Valentina; Micalizzi, Alessia; Gleeson, Joseph G; Mazza, Tommaso; Rossi, Andrea; Valente, Enza Maria; Azmat, Shazia; Rafat, Ummara; Gilden, Janice L

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

由GALNT2功能丧失引起的O-连接糖基化先天性新疾病

Zilmer, Monica; Edmondson, Andrew C; Khetarpal, Sumeet A; Alesi, Viola; Zaki, Maha S; Rostasy, Kevin; Madsen, Camilla G; Lepri, Francesca R; Sinibaldi, Lorenzo; Cusmai, Raffaella; Novelli, Antonio; Issa, Mahmoud Y; Fenger, Christina D; Abou Jamra, Rami; Reutter, Heiko; Briuglia, Silvana; Agolini, Emanuele; Hansen, Lars; Petäjä-Repo, Ulla E; Hintze, John; Raymond, Kimiyo M; Liedtke, Kristen; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Vitali, Cecilia; O'Brien, W Timothy; Gardella, Elena; Rubboli, Guido; Rader, Daniel J; Schjoldager, Katrine T; Møller, Rikke S

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

Friedman Jennifer, Smith Desiree E, Issa Mahmoud Y, Stanley Valentina, Wang Rengang, Mendes Marisa I, Wright Meredith S, Wigby Kristen, Hildreth Amber, Crawford John R, Koehler Alanna E, Chowdhury Shimul, Nahas Shareef, Zhai Liting, Xu Zhiwen, Lo Wing-Sze, James Kiely N, Musaev Damir, Accogli Andrea, Guerrero Kether, Tran Luan T, Omar Tarek E I, Ben-Omran Tawfeg, Dimmock David, Kingsmore Stephen F, Salomons Gajja S, Zaki Maha S, Bernard Geneviève, Gleeson Joseph G

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

鞘脂去饱和酶DEGS1的缺失会导致髓鞘形成不足性脑白质营养不良

Pant, Devesh C; Dorboz, Imen; Schluter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera-Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas, Carlos; Willis, Mary J; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier-Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N; Musaev, Damir; Zaki, Maha S; Patterson, Marc C; Lanpher, Brendan C; Klee, Eric W; Pinto E Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M; Cohen, Julie S; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamreza; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G; Pujades, Cristina; Fatemi, Ali; Boespflug-Tanguy, Odile; Pujol, Aurora

Genome wide analysis of 3' UTR sequence elements and proteins regulating mRNA stability during maternal-to-zygotic transition in zebrafish

斑马鱼母源向合子转变过程中3'UTR序列元件和调控mRNA稳定性的蛋白质的全基因组分析

Vejnar, Charles E; Abdel Messih, Mario; Takacs, Carter M; Yartseva, Valeria; Oikonomou, Panos; Christiano, Romain; Stoeckius, Marlon; Lau, Stephanie; Lee, Miler T; Beaudoin, Jean-Denis; Musaev, Damir; Darwich-Codore, Hiba; Walther, Tobias C; Tavazoie, Saeed; Cifuentes, Daniel; Giraldez, Antonio J

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

编码内质网连接稳定蛋白 Lunapark 的 LNPK 基因突变会导致隐性神经发育综合征。

Breuss, Martin W; Nguyen, An; Song, Qiong; Nguyen, Thai; Stanley, Valentina; James, Kiely N; Musaev, Damir; Chai, Guoliang; Wirth, Sara A; Anzenberg, Paula; George, Renee D; Johansen, Anide; Ali, Shaila; Zia-Ur-Rehman, Muhammad; Sultan, Tipu; Zaki, Maha S; Gleeson, Joseph G

Biallelic variants in KIF14 cause intellectual disability with microcephaly

KIF14基因的双等位基因变异会导致伴有小头畸形的智力障碍

Makrythanasis, Periklis; Maroofian, Reza; Stray-Pedersen, Asbjørg; Musaev, Damir; Zaki, Maha S; Mahmoud, Iman G; Selim, Laila; Elbadawy, Amera; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Gambin, Tomasz; Sorte, Hanne S; Heiberg, Arvid; McEvoy-Venneri, Jennifer; James, Kiely N; Stanley, Valentina; Belandres, Denice; Guipponi, Michel; Santoni, Federico A; Ahangari, Najmeh; Tara, Fatemeh; Doosti, Mohammad; Iwaszkiewicz, Justyna; Zoete, Vincent; Backe, Paul Hoff; Hamamy, Hanan; Gleeson, Joseph G; Lupski, James R; Karimiani, Ehsan Ghayoor; Antonarakis, Stylianos E

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

TRAPPC6B基因的纯合创始突变与一种神经发育障碍相关,该障碍的特征是小头畸形、癫痫和自闭症特征。

Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L; Stanley, Valentina; Rosti, Rasim O; Gleeson, Jeremy W; Imam, Farhad B; Zaki, Maha S; Gleeson, Joseph G

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

tRNA剪接内切酶亚基TSEN15的常染色体隐性突变导致脑桥小脑发育不全和进行性小头畸形

Breuss, Martin W; Sultan, Tipu; James, Kiely N; Rosti, Rasim O; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, André; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S; Reuter, Miriam S; Abou Jamra, Rami; Trotta, Christopher R; Gleeson, Joseph G

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

编码溶血磷脂酰肌醇酰基转移酶 I 的 MBOAT7 基因突变会导致智力障碍,并伴有癫痫和自闭症特征。

Johansen, Anide; Rosti, Rasim O; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Çağlayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, André; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B; Gleeson, Joseph G; Abou Jamra, Rami