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Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant微管病病例系列：一种新型错义TUBB变异相关的显著家族内表型异质性
Kavcic, Alja; Avsenik, Jernej; Writzl, Karin; Stavber, Lana; Bertok, Sara; Debeljak, Marusa; Sustar, Natasa; Maver, Ales; Velkavrh, Manca; Salamon, Aneta Soltirovska.png)
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收藏 Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic科斯泰洛综合征中应用曲美替尼解决难治性多灶性房性心动过速：一例支持MEK抑制剂作为靶向特异性抗心律失常药物Taliercio, Vanina; Wilcox, Annabelle; Cole, Stacey; Daboub, Josue Flores; Moreno, Jose E. Morales; Andrews, Kasey G.; Asaki, S. Yukiko; Pilcher, Thomas A.; Tristani-Firouzi, Martin; Niu, Mary C.; Viskochil, David; Hammond, Benjamin 分享 收藏 Long-Term Follow Up of Two Patients With Variants in the Cluster 1031-1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism对TRRAP基因簇1031-1159区间变异的两个患者的长期随访：扩展伴有或不伴有畸形面容和自闭症的发育迟缓表型Zechi-Ceide, Roseli Maria; Segarra, Vinicius Contrucci Dantas; Vendramini-Pittoli, Siulan; Serigatto, Henrique Regonaschi; Virmond, Luiza; Palhares, Heloisa Marcelina da Cunha; Jehee, Fernanda; Krepischi, Ana Cristina Victorino; Rosenberg, Carla; Grangeiro, Carlos Henrique Paiva; Kokitsu-Nakata, Nancy Mizue 分享 收藏 High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported DataWAGR谱系障碍的高分辨率基因组特征分析：来自一个新型队列和文献综述的见解，以及患者报告数据的验证George, Andrew M.; Duki, Bamelak T.; Katz, Zoe S.; Viswanathan, Aravind; MacFarland, Suzanne P.; Hathaway, Evan R.; Monahan, Caitlin; Morris, John; Trout, Kelly L.; Krantz, Shari M.; Ganguly, Arupa; Kalish, Jennifer M. 分享 收藏 35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations35例HUWE1相关神经发育障碍患者及建议的临床评估Li, Mindy H.; Coleman, Deziree L.; Hogan, Kelsey; Luz, Danielle; Bhandari, Lindsay; Belnap, Newell; Busa, Tiffany; Coutton, Charles; Dieterich, Klaus; Gorokhova, Svetlana; Hildebrandt, Clara; Logan, Rachel; Mariani, Milena; Morleo, Manuela; Nigro, Vincenzo; Pappas, John; Rabin, Rachel; Schoch, Kelly; Selicorni, Angelo; Shashi, Vandana; Spillmann, Rebecca; Sullivan, Jennifer; Tardy, Charlotte; Vergano, Samantha A. Schrier; Grill, Brock; Baranano, Kristin 分享 收藏 Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review意大利Xia-Gibbs综合征患者队列的临床、行为和神经放射学表型：一项多中心横断面研究及系统文献综述Cinelli, Giulia; Della Vecchia, Stefania; Bergonzini, Patrizia; Caramaschi, Elisa; Spezia, Elisabetta; Parenti, Claudia; Madeo, Simona Filomena; Lucaccioni, Laura; Francesca, Cavalleri; Pugliese, Marisa; Raviglione, Federico; Colonna, Clara; Calabrese, Olga; Stanghellini, Ilaria; Marongiu, Maria Carmen; Biagioni, Enrico; Ferrari, Anna Rita; Battini, Roberta; Iughetti, Lorenzo 分享 收藏 De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling常染色体隐性条件相关的全新变异：病例系列及其对遗传检测和咨询的启示Niehaus, Annie D.; Bonner, Devon E.; Carter, Jennefer; Avello, Kayleigh; Jacob, Natalie; Neu, Matthew B.; Mendez, Rodrigo; Qiao, Wanqiong; Scott, Stuart A.; Levy, Rebecca J.; Mattas, Lauren; Schymick, Jennifer; Van Andel, Michael; Muntoni, Francesco; Mueller, Juliane; Sarkozy, Anna; DiTroia, Stephanie; O'Leary, Melanie; Neale, Ashana; O'Donnell-Luria, Anne; Toro, Camilo; Wolfe, Lynne A.; Martinez-Agosto, Julian A.; Montgomery, Stephen B.; Wheeler, Matthew T.; Bernstein, Jonathan A.; Tise, Christina G. 分享 收藏 A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients富马酸酶缺乏症的诊断难题：在儿科和成人患者队列中扩展临床和遗传谱Ting, Siew Li; Bassett, John; Meyer, Jonathan; Anderson, Mark; Bowron, Ann; Weber, Astrid; Wu, Teresa H. Y.; Mitchell, Rowena; Robinson, Rachel; Morris, Andrew A. M.; Stepien, Karolina M. 分享 收藏 
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