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

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

ACNP 63rd Annual Meeting: Keyword Index

ACNP 第 63 届年会:关键词索引

Miyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

公共资助的针对神经发育障碍门诊患者的外显子组测序显示,意外发现率很高,这些发现会影响医疗管理。

Nakhleh Francis, Yara; Hershkovitz, Tova; Ekhilevitch, Nina; Habib, Clair; Ravid, Sarit; Tal, Galit; Schertz, Mitchell; Mory, Adi; Zinger, Amihood; Baris Feldman, Hagit; Zaid, Rinat; Paperna, Tamar; Weiss, Karin

Vici syndrome in Israel: Clinical and molecular insights

以色列的维奇综合征:临床和分子见解

Chorin, Odelia; Hirsch, Yoel; Rock, Rachel; Salzer Sheelo, Liat; Goldberg, Yael; Mandel, Hanna; Hershkovitz, Tova; Fleischer, Nicole; Greenbaum, Lior; Katz, Uriel; Barel, Ortal; Hamed, Nasrin; Ben-Zeev, Bruria; Greenberger, Shoshana; Nasser Samra, Nadra; Stern Zimmer, Michal; Raas-Rothschild, Annick; Pode-Shakked, Ben

Experts' views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease

专家对新冠疫苗接种以及疫情对戈谢病患者影响的看法

Hamiel, Uri; Kurolap, Alina; Cohen, Ian J; Ruhrman-Shahar, Noa; Hershkovitz, Tova; Niederau, Claus; Zimran, Ari; Revel-Vilk, Shoshana; Istaiti, Majdolen; Cappellini, Maria Domenica; Baris Feldman, Hagit

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

一种反复出现的NFS1致病变异会导致线粒体疾病,且家族内患者的预后差异很大。

Hershkovitz, Tova; Kurolap, Alina; Tal, Galit; Paperna, Tamar; Mory, Adi; Staples, Jeffrey; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Dumin, Elena; Saada, Ann; Mandel, Hanna; Baris Feldman, Hagit

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

TCF7L2基因的新生突变与一种综合征性神经发育障碍相关。

Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs-Hoeijmakers, Janneke; Boon, Elles M J; van Hagen, Johanna M; Zwijnenburg, Petra; Weiss, Marjan M; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G; Kotzot, Dieter; Mayr, Johannes A; Ben-Omran, Tawfeg; Mahmoud, Laila; Pais, Lynn S; Walsh, Christopher A; Shashi, Vandana; Sullivan, Jennifer A; Stong, Nicholas; Lecoquierre, Francois; Guerrot, Anne-Marie; Charollais, Aude; Rodan, Lance H

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

罕见病诊断:单中心经验及教训

Weiss, Karin; Kurolap, Alina; Paperna, Tamar; Mory, Adi; Steinberg, Maya; Hershkovitz, Tova; Ekhilevitch, Nina; Baris, Hagit N

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

甘氨酸转运蛋白1的缺失会导致一种伴有关节挛缩和脑脊液甘氨酸轻度升高的甘氨酸脑病亚型。

Kurolap, Alina; Armbruster, Anja; Hershkovitz, Tova; Hauf, Katharina; Mory, Adi; Paperna, Tamar; Hannappel, Ewald; Tal, Galit; Nijem, Yusif; Sella, Ella; Mahajnah, Muhammad; Ilivitzki, Anat; Hershkovitz, Dov; Ekhilevitch, Nina; Mandel, Hanna; Eulenburg, Volker; Baris, Hagit N