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European Journal of Medical Genetics

IF1.7
论文数41
被引数
期刊论文 41
发表时间
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Child-onset hepatic glycogenosis and steatosis in PTEN-related disorderPTEN相关疾病中的儿童起病性肝糖原沉积和脂肪变性
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-07-01
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deleteOAAI
deleteSihaklang, Boonyanurak; Vaseenon, Hathaipat; Lertudomphonwanit, Chatmanee; Sornmayura, Pattana; Getsuwan, Songpon; Treepongkaruna, Suporn; Wattanasirichaigoon, Duangrurdee
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STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findingsSTAT3显性负性高IgE综合征：具有可操作基因组发现的患者报告
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deleteBloom, Aislinn S.; Amendola, Laura M.; Reynolds-Lallement, Nadjalisse; Urban, Amanda; Freeman, Alexandra F.; Walkiewicz, Magdalena A.; Similuk, Morgan N.
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Letter to the editor: Comment on "Involvement of cranial nerves in ATTR Ile127Val amyloidosis" by Silva Batista JAD et al. (Eur J Med Genet. 2022 Jul;65(7):104524) and report of 3 new patients致编辑的信：对Silva Batista JAD等人关于“ATTR Ile127Val淀粉样变性中颅神经的参与”（Eur J Med Genet. 2022 Jul;65(7):104524）的评论及3例新病例报告
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deleteRodrigues, Cleonisio Leite; Brito, Lara Albuquerque; Freitas, Hermany Capistrano
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SPIN4-related X-linked overgrowth in a familySPIN4相关的X连锁过度生长在一个家族中
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deletePolluaas, Lisanna; Lilles, Stella; Peet, Aleksandr; Jee, Youn Hee; Murumets, Ulle; Ilisson, Mihkel; Lintrop, Mare; Ounap, Katrin
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MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a familyMMP13相关的干骺端发育异常1型在家族中表现为佝偻病样症状
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deleteThunstrom, Sofia; Antonsson, Pavel; Stenberg, Simon; Aspholm, Emelie E.; Eide, Diana Swolin
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Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant一个携带新型SGCE变异的法国大家族中肌阵挛性肌张力障碍的家族内变异性
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deletePopescu, Cyprian
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Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypes水平眼球凝视麻痹伴进行性脊柱侧凸(HGPPS)：扩展ROBO3分子谱并细化临床-神经影像表型
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deleteNosrati, Mohammad Sadegh Shams; Romano, Ferruccio; Dostmohammadi, Alireza; Traverso, Monica; Nemati, Amir Hesam; Madia, Francesca; De Marco, Patrizia; Doustmohammadi, Morteza; Iacomino, Michele; Tavassol, Zahra Hoseini; Boogari, Mahsa; Khorasanian, Reihaneh; Omrani, Mir Davood; Zara, Federico; Scala, Marcello
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Reflex sympathetic dystrophy-like unilateral erythema caused by a germline SCN9A variant由生殖系SCN9A变异引起的反射性交感神经萎缩症样单侧红斑
deleteEuropean Journal of Medical Genetics
IF1.7
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deleteNakato, Daisuke; Komatsu, Rieko; Ono, Ikumi; Misu, Kumiko; Nakano, Satsuki; Goto, Yumiko; Miya, Fuyuki; Kosaki, Kenjiro
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Phenotypic discordance in monozygotic twins with a CDH2 variant单合子双胞胎中携带CDH2变异的表型不一致
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-05-01
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deleteHansman, Laura; Galan-Cadena, Jose; Bartlett, Victoria; Goldring, Georgina; Mitchell, Tim; Mittag, Dana; Prosnitz, Aaron; Macaya, Daniela; Baker, Elizabeth K.
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Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort脊髓小脑发育不全的遗传与临床见解：伊朗人群中新变异的鉴定
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deleteRezaei, Zahra; Emami, Farnoosh; Heidari, Morteza; Mohammadi, Mahmoud; Yousefian, Milad; Badv, Reza Shervin; Kowkabi, Safoura; Mahdieh, Nejat; Ashrafi, Mahmoud Reza
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Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant一个携带新型SGCE变异的法国大家族中肌阵挛性肌张力障碍的家族内变异性
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-03-01
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PREAI
deletePopescu, Cyprian
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Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome新生儿红皮病和免疫发育不良：软骨毛发发育不全与Omenn综合征的重叠
deleteEuropean Journal of Medical Genetics
IF1.7
delete2026-02-01
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deleteInsalaco, Anna; Rossi, Cecilia; Bertucci, Emma; Fiorentini, Chiara; Soresina, Annarosa; Giliani, Silvia; Porta, Fulvio; Berardi, Alberto; Lugli, Licia
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Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype新生儿中链酰基辅酶A脱氢酶缺乏症的心动过速心肌病样表现：一种新的心脏表型
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deleteMorana, Elisabetta; Baronio, Federico; Lanari, Marcello; Candela, Egidio; Ortolano, Rita; Bonetti, Simone; Bronzetti, Gabriele; Biasucci, Giacomo; Hasan, Tammam; Ragni, Luca; Donti, Andrea
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The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis意大利Angelman综合征登记册（IReAS）：标准化数据收集和基因型-表型分析的工具
deleteEuropean Journal of Medical Genetics
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delete2026-01-01
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deleteBuoncuore, Giorgia; Salvatore, Marco; Rocchetti, Adele; Facciaroni, Lorenzo; Veneselli, Edvige; Elia, Maurizio; Russo, Silvia; Armando, Michelina; Germano, Michele; Prisco, Tommaso; Sartori, Stefano; Marinella, Gemma; Battini, Roberta; Gobbi, Giuseppe; Torreri, Paola
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Thoracic chordoma following intracranial meningioma in a patient with a novel germline SMARCE1 variant颅内脑膜瘤患者携带新型胚系SMARCE1变异后发生胸椎脊索瘤
deleteEuropean Journal of Medical Genetics
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deleteTsurubuchi, Takao; Yamaki, Yuni; Fukushima, Hiroko; Sato, Kosuke; Takahashi, Hiroshi; Karita, Hiroki; Sakamoto, Noriaki; Mizumoto, Masashi; Nakai, Kei; Sakurai, Hideyuki; Muroi, Ai; Matsuda, Masahide; Takada, Hidetoshi; Ishikawa, Eiichi
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A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion一名癫痫和全面发育迟缓患者中的新型CUX2框移变异：表型和基因型的扩展
deleteEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
delete2025-12-01
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deleteRomano, Ferruccio; Nosrati, Mohammad Sadegh Shams; Madia, Francesca; Ognibene, Marzia; Traverso, Monica; Breda, Marta; Dostmohammadi, Alireza; Scala, Marcello; Zara, Federico; Mancardi, Maria Margherita; Capra, Valeria
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A novel RORA genetic variant associated with early-onset obesity and insomnia (vol 76, 105028, 2025)一种与早发性肥胖和失眠相关的RORA新型基因变异（卷 76，105028，2025）
deleteEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
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deleteOuellette, Alexie; Allain, Eric P.; Almaghraby, Abdullah; Bouhamdani, Dominique; Ben Amor, Mouna
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Diagnostic yield of whole exome sequencing in a cohort of 825 patients全外显子组测序在825例患者中的诊断率
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deleteAndersen, Peter Forster; Ek, Jakob; Karstensen, Helena Gasdal; Bak, Mads; Gronborg, Sabine Weller; Hove, Hanne Buciek; Diness, Birgitte; Hjortshoj, Tina Duelund; Hammer, Trine Bjorg; Hoi-Hansen, Christina; Schonewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Duno, Morten; Ostergaard, Elsebet
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Recurrence of occipital meningocele in 2 fetal sibs due to monoallelic MSX2 variant因单等位基因MSX2变异导致2例胎儿同胞中枕骨脑膜膨出的复发
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deleteFetecau, Andreea-Catalina; Grotto, Sarah; Anselem, Olivia; Molac, Clemence; Bertrand, Jeremy; Loeuilletc, Laurence; Attie-Bitach, Tania
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Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case reportGATA4基因致病性变异与房室间隔缺损及先天性膈疝相关：一例病例报告
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delete2025-11-01
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deleteHowat, John; Vigneswaran, Trisha; Papageorghiou, Aris; Mansour, Sahar
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