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

Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis

脑瘫基因检测结果的临床应用价值:系统评价和荟萃分析

Lewis, Sara A; Chopra, Maya; Cohen, Julie S; Bain, Jennifer M; Aravamuthan, Bhooma; Carmel, Jason B; Fahey, Michael C; Segel, Reeval; Wintle, Richard F; Zech, Michael; May, Halie; Haque, Nahla; Fehlings, Darcy; Srivastava, Siddharth; Kruer, Michael C

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

National Rapid Genome Sequencing in Neonatal Intensive Care

新生儿重症监护中的国家快速基因组测序

Marom, Daphna; Mory, Adi; Reytan-Miron, Sivan; Amir, Yam; Kurolap, Alina; Cohen, Julia Grinshpun; Morhi, Yocheved; Smolkin, Tatiana; Cohen, Lior; Zangen, Shmuel; Shalata, Adel; Riskin, Arieh; Peleg, Amir; Lavie-Nevo, Karen; Mandel, Dror; Chervinsky, Elana; Fisch, Clari Felszer; Fleisher Sheffer, Vered; Falik-Zaccai, Tzipora C; Rips, Jonathan; Shlomai, Noa Ofek; Friedman, Smadar Eventov; Shporen, Calanit Hershkovich; Ben-Yehoshua, Sagie Josefsberg; Simmonds, Aryeh; Yaacobi, Racheli Goldfarb; Bauer-Rusek, Sofia; Omari, Hussam; Weiss, Karin; Hochwald, Ori; Koifman, Arie; Globus, Omer; Batzir, Nurit Assia; Yaron, Naveh; Segel, Reeval; Morag, Iris; Reish, Orit; Eliyahu, Aviva; Leibovitch, Leah; Schwartz, Marina Eskin; Abramsky, Ramy; Hochberg, Amit; Oron, Anat; Banne, Ehud; Portnov, Igor; Samra, Nadra Nasser; Singer, Amihood; Baris Feldman, Hagit

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

PPAR-γ激动剂吡格列酮可恢复PITRM1缺陷患者成纤维细胞的线粒体质量控制

Alessia Di Donfrancesco ,Christian Berlingieri ,Marta Giacomello ,Chiara Frascarelli ,Ana Paula Magalhaes Rebelo ,Laurence A Bindoff ,Segel Reeval ,Paul Renbaum ,Filippo M Santorelli ,Giulia Massaro ,Carlo Viscomi ,Massimo Zeviani ,Daniele Ghezzi ,Emanuela Bottani ,Dario Brunetti

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

在接受治疗性蛋白治疗的未接受过酶替代疗法(ERT)的患者中,采用短暂低剂量甲氨蝶呤进行免疫耐受治疗:婴儿型庞贝病的经验

Kazi, Zoheb B; Desai, Ankit K; Troxler, R Bradley; Kronn, David; Packman, Seymour; Sabbadini, Marta; Rizzo, William B; Scherer, Katalin; Abdul-Rahman, Omar; Tanpaiboon, Pranoot; Nampoothiri, Sheela; Gupta, Neerja; Feigenbaum, Annette; Niyazov, Dmitriy M; Sherry, Langston; Segel, Reeval; McVie-Wylie, Alison; Sung, Crystal; Joseph, Alexandra M; Richards, Susan; Kishnani, Priya S

Essential Role of BRCA2 in Ovarian Development and Function

BRCA2在卵巢发育和功能中的关键作用

Weinberg-Shukron, Ariella; Rachmiel, Mariana; Renbaum, Paul; Gulsuner, Suleyman; Walsh, Tom; Lobel, Orit; Dreifuss, Amatzia; Ben-Moshe, Avital; Zeligson, Sharon; Segel, Reeval; Shore, Tikva; Kalifa, Rachel; Goldberg, Michal; King, Mary-Claire; Gerlitz, Offer; Levy-Lahad, Ephrat; Zangen, David

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male

普拉德-威利综合征男性生殖细胞肿瘤(精原细胞瘤)甲基化不完全

Eldar-Geva, Talia; Gross-Tsur, Varda; Hirsch, Harry J; Altarescu, Gheona; Segal, Reeval; Zeligson, Sharon; Golomb, Eliahu; Epsztejn-Litman, Silvina; Eiges, Rachel

Brain calcifications and PCDH12 variants

脑钙化和PCDH12变异

Nicolas, Gaël; Sanchez-Contreras, Monica; Ramos, Eliana Marisa; Lemos, Roberta R; Ferreira, Joana; Moura, Denis; Sobrido, Maria J; Richard, Anne-Claire; Lopez, Alma Rosa; Legati, Andrea; Deleuze, Jean-François; Boland, Anne; Quenez, Olivier; Krystkowiak, Pierre; Favrole, Pascal; Geschwind, Daniel H; Aran, Adi; Segel, Reeval; Levy-Lahad, Ephrat; Dickson, Dennis W; Coppola, Giovanni; Rademakers, Rosa; de Oliveira, João R M

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

由ITPR1基因突变引起的29型脊髓小脑性共济失调:病例系列及对这种新兴先天性共济失调的综述

Zambonin, Jessica L; Bellomo, Allison; Ben-Pazi, Hilla; Everman, David B; Frazer, Lee M; Geraghty, Michael T; Harper, Amy D; Jones, Julie R; Kamien, Benjamin; Kernohan, Kristin; Koenig, Mary Kay; Lines, Matthew; Palmer, Elizabeth Emma; Richardson, Randal; Segel, Reeval; Tarnopolsky, Mark; Vanstone, Jason R; Gibbons, Melissa; Collins, Abigail; Fogel, Brent L; Dudding-Byth, Tracy; Boycott, Kym M

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

PCDH12功能丧失是隐性小头畸形的根本原因,这种畸形类似于宫内感染。

Aran, Adi; Rosenfeld, Nuphar; Jaron, Ranit; Renbaum, Paul; Zuckerman, Shachar; Fridman, Hila; Zeligson, Sharon; Segel, Reeval; Kohn, Yoav; Kamal, Lara; Kanaan, Moien; Segev, Yoram; Mazaki, Eyal; Rabinowitz, Ron; Shen, Ori; Lee, Ming; Walsh, Tom; King, Mary Claire; Gulsuner, Suleyman; Levy-Lahad, Ephrat