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

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren

Analysis of visual evoked potentials in patients with neurofibromatosis type 1: new concepts

1型神经纤维瘤病患者视觉诱发电位的分析:新概念

Jancic, Jasna; Zarkovic, Nikola; Nikolic, Blazo; Ivancevic, Nikola; Rovcanin, Branislav; Nesic, Dejan

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

功能和临床研究揭示了CLCN4相关神经发育障碍的病理生理复杂性

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M; Sands, Tristan T; Wilson, Golder N; Silvertooth, Erin J; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H; Ockeloen, Charlotte W; Pfundt, Rolph; Kroft, Sanne D; Field, Michael; Laranjeira, Francisco E R; Fortuna, Ana M; Soares, Ana R; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D; Bird, Lynne M; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M; Blazo, Maria; Bijlsma, Emilia K; Rosenfeld, Jill A; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S; Armstrong, Ruth; Kalscheuer, Vera M

Child Neurology: Bartonella henselae Neuroretinitis in 2 Patients

儿童神经病学:2例汉塞巴尔通体神经视网膜炎患者

Nikolic, Blazo; Ivancevic, Nikola; Pepic, Ana; Kovacevic, Marijana; Mladenovic, Jelena; Rovcanin, Branislav; Samardzic, Janko; Jancic, Jasna

The Association Between Regular Physical Exercise, Sleep Patterns, Fasting, and Autophagy for Healthy Longevity and Well-Being: A Narrative Review

规律运动、睡眠模式、禁食和自噬与健康长寿和幸福感之间的关联:一项叙述性综述

Min, Sicheng; Masanovic, Bojan; Bu, Te; Matic, Radenko M; Vasiljevic, Ivan; Vukotic, Marina; Li, Jiaomu; Vukovic, Jovan; Fu, Tao; Jabucanin, Blazo; Bujkovic, Rajko; Popovic, Stevo

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

扩展NF1基因3 bp框内缺失(c.2970_2972del)患者的临床表型:基因型-表型相关性的更新

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

更正:扩展NF1基因3 bp框内缺失(c.2970_2972del)患者的临床表型:基因型-表型相关性的更新

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

Multiple Sclerosis in Pediatrics: Current Concepts and Treatment Options

儿童多发性硬化症:当前概念和治疗方案

Jancic, Jasna; Nikolic, Blazo; Ivancevic, Nikola; Djuric, Vesna; Zaletel, Ivan; Stevanovic, Dejan; Peric, Sasa; van den Anker, John N; Samardzic, Janko

The practice of adult genetics: a 7-year experience from a single center

成人遗传学实践:来自单一中心的7年经验

Eble, Tanya N; Nagamani, Sandesh C S; Franco, Luis M; Plon, Sharon E; Blazo, Maria; Dhar, Shweta U

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

22q13.3缺失综合征:基于阵列比较基因组杂交的临床和分子分析

Dhar, S U; del Gaudio, D; German, J R; Peters, S U; Ou, Z; Bader, P I; Berg, J S; Blazo, M; Brown, C W; Graham, B H; Grebe, T A; Lalani, S; Irons, M; Sparagana, S; Williams, M; Phillips, J A 3rd; Beaudet, A L; Stankiewicz, P; Patel, A; Cheung, S W; Sahoo, T