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

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature

生长激素治疗对患有ACAN相关矮小症的大家庭儿童的影响

Shalev-Goldman, Einat; Asaly, Ayman; Ityel, Hadas; Pode-Shakked, Ben; Modan-Moses, Dalit; Levy-Shraga, Yael

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

对患有费兰-麦克德米德综合征的以色列患者进行临床特征分析和医疗管理

Chorin, Odelia; Greenbaum, Lior; Lev-Hochberg, Shelly; Feinstein-Goren, Neta; Eliyahu, Aviva; Shani, Hagit; Pras, Elon; Weissbach, Tal; Bolkier, Yoav; Heimer, Gali; Lev, Dorit; Michelson, Marina; Regev, Miriam; Josefsberg, Sagi; Batzir, Nurit Assia; Shalata, Adel; Spiegel, Ronen; Segel, Reeval; Lobel, Orit; Abu-Libdeh, Bassam; Shohat, Mordechai; Frydman, Moshe; Hady-Cohen, Ronen; Pode-Shakked, Ben; Rein-Rothschild, Annick

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events

双等位基因PIGM编码变异导致难治性癫痫和智力障碍,但无血栓事件

Heimer, Gali; Pode-Shakked, Ben; Marek-Yagel, Dina; Vernitsky, Helly; Tzadok, Michal; Barel, Ortal; Eyal, Eran; Ben-Zeev, Bruria; Atzmon, Gil; Anikster, Yair

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

与智力障碍和痉挛性截瘫相关的GRID1/GluD1纯合变异会损害mGlu1/5受体信号传导和兴奋性突触。

Ung, Dévina C; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

双等位基因DAW1变异会导致一种运动性纤毛病,其特征是侧向性缺陷和轻微的纤毛摆动异常。

Leslie, Joseph S; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H; Craig, Samuel B; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Lorentzen, Esben; Norris, Dominic P; Anikster, Yair; Omran, Heymut; Grimes, Daniel T; Crosby, Andrew H; Baple, Emma L

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom

遗传性压力性麻痹易感性神经病(HNPP):家族内表型变异性以及以幼儿期拒绝行走为首发症状

Karklinsky, Shani; Kugler, Shir; Bar-Yosef, Omer; Nissenkorn, Andreea; Grossman-Jonish, Anat; Tirosh, Irit; Vivante, Asaf; Pode-Shakked, Ben

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

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

外显子组测序在普通儿科病房中对疑似遗传疾病住院儿童的临床意义

Kagan, Maayan; Semo-Oz, Rotem; Ben Moshe, Yishay; Atias-Varon, Danit; Tirosh, Irit; Stern-Zimmer, Michal; Eliyahu, Aviva; Raas-Rothschild, Annick; Bivas, Maayan; Shlomovitz, Omer; Chorin, Odelia; Rock, Rachel; Tzadok, Michal; Ben-Zeev, Bruria; Heimer, Gali; Bolkier, Yoav; Gruber, Noah; Dagan, Adi; Bar Aluma, Bat El; Pessach, Itai M; Rechavi, Gideon; Barel, Ortal; Pode-Shakked, Ben; Anikster, Yair; Vivante, Asaf