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Clinical Genetics 封面图

Clinical Genetics

IF2.3
论文数362
被引数8127
期刊论文 362
发表时间
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Silent Ears, Failing Heart: Dilated Cardiomyopathy in an Infant With LARS2-Related Perrault Syndrome Type 4 (PRLTS4)沉默的耳朵，衰竭的心脏：一名具有LARS2相关佩罗特综合征4型（PRLTS4）的婴儿的扩张型心肌病
deleteClinical Genetics
IF2.3
delete2026-10-23
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PREAI
deleteFaten Ahmad Alkateb; Reham Aljohani; Mohammed S. Alkahmous; Aziza Mushiba
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Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar以HNRNPU为例的罕见神经发育障碍基因导向疗法的挑战
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IF2.3
delete2026-10-22
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deleteDaniel Aiyedun; Susan F. Rogers; Doaa M. Taha; Meena Balasubramanian
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Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series脑室扩大伴中脑导水管异常：病例系列
deleteClinical Genetics
IF2.3
delete2026-10-20
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PREAI
deleteRomain Nicolle; Laurence Loeuillet; Bettina Bessieres; Lucile Boutaud; Sarah Grotto; Nicolas Bourgon; Maryse Bonniere; Jelena Martinovic; Aude Tessier; Nathalie Roux; Giulia Petrilli; Naima Talhi; Marion Lesieur‐Sebellin; Jérémy Bertrand; Anaïs L'haridon; Aurélie Coussement; Marie‐Laure Maurin; Marie‐Paule Beaujard; Valérie Malan; Férechté Razavi; Tania Attie‐Bitach
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A Familial Case of Thauvin–Robinet–Faivre Syndrome ( TROFAS ), Presenting With Postaxial Polydactyly and Upper Lip Vascular MalformationThauvin–Robinet–Faivre综合征（TROFAS）的一个家族病例，伴有远端多指（趾）畸形和上唇血管畸形
deleteClinical Genetics
IF2.3
delete2026-10-18
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deleteFederica Ruscitti; Xenia Latypova; Faustine Ageorges; Antonio Vitobello; Christophe Philippe; Frédéric Tran Mau Them; Yannis Duffourd; Georges Gelwane; Cherine Benzouid; Yline Capri
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Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome两个截断型MITF变异扩展了COMMAD综合征的表型谱
deleteClinical Genetics
IF2.3
delete2026-10-08
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PREAI
deleteAndreas Pampanos; Anastasia-E. Kostantinidou; Maria Tzetis; Vassilis Papanikolaou; Vasiliki Falaina; Aspasia Tsezou
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A Homozygous ALCAM–CBLB Deletion at 3q13.11‐q13.12 Defines a Candidate Novel Oculo‐Skeletal‐Immune Contiguous Gene Deletion Syndrome纯合性ALCAM–CBLB 3q13.11‐q13.12缺失定义了一种候选的新型眼-骨骼-免疫连续基因缺失综合征
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IF2.3
delete2026-10-08
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PREAI
deleteNilay Kan Menkü; Mehlika Meryem Sarı; Filiz Başak Ergin; Tuğçe İnal; Kazım Seçgen; Avniye Kübra Baskın; Rüştü Fikret Akata; Fatih Ezgü
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Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10)复合杂合子PLVAP错义变异与减弱的蛋白质丢失性肠病(DIAR10)相关
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IF2.3
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deleteJana Zídková; Dagmar Procházková; Petra Konečná; Kamila Réblová; Tereza Kramářová; Johana Kopčilová; Magdaléna Soukup Vodičková; Romana Borská; Lenka Fajkusová
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Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population近亲繁殖人群队列中先天性心脏病基因组检测分析
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IF2.3
delete2026-10-08
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deleteAbeer Almostafa; Maarab Al‐Korashy; Zarghuna Shinwari; Saud Takroni; Sahar Tulbah; Nadiah Al‐Ruwaili; Aisha Alqahtani; Faten AlHadheq; Hadeel Binomar; Amal AlDowaihi; Hamzah Naji; Waleed Manea; Abdullah Alwadai; Dimpna C. Albert Brotons; Abdulaziz Alfadley; Abdullah AlQwaee; Amani Othman; Abdullah Alhuzaimi; Saud Aloufi; Ghassan Siblini; Fadel Alfadley; Abdullah Alsehly; Mohammed Alhabdan; Ali Alakhfash; Mansour Aljoufan; Abdulrahman Almesned; Zohair Alhalees; Zuhair Al‐Hassnan
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A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome一名成年发病型原发性侧索硬化症样综合征患者中的ATP1A3 p.Arg995His新发变异
deleteClinical Genetics
IF2.3
delete2026-10-03
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deletePablo Hernandez-Vitorique; Marta García de Burgos; Ana Campos Villegas; María José Gómez Heredia; Pilar Carbonell Corvillo
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A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review一种G1结构域中ACAN错义变异导致身材矮小、骨龄提前和剥脱性骨软骨炎：病例报告及文献综述
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IF2.3
delete2026-10-03
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deleteCuilan Lin; Dongxue Pan; Xin Lai; Simao Fu
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A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in HumansKHDC4基因中的纯合移码变异与人类综合征性遗传性视网膜疾病相关
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IF2.3
delete2026-10-01
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deleteAsodu Sandeep Sarma; Neta Barnoy; Prakadeeswari Gopalakrishnan; Keren Dichter; Rotem Mizrachi; Manar Salameh; Eyal Banin; Dror Sharon; Adi Inbal; Samer Khateb
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Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype来自土耳其的一个RAS病队列的临床和分子特征及一种AMMECR1相关的类 Noonan 综合征表型
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IF2.3
delete2026-09-30
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deleteEsma Nur Konur Akbaş; Güven Toksoy; Şahin Avcı; Umut Altunoğlu; Tuğba Kalaycı; Gözde Yeşil Sayın; Hülya Kayserili; Zehra Oya Uyguner; Ayça Dilruba Aslanger
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Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin–Siris Syndrome: A Rare Co-Occurring Anomaly米勒管发育不全伴发SMARCB1相关 coffin–Siris综合征：一种罕见的合并畸形
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deleteAnneli C. S. Bolund; Esben Thyssen Vestergaard; Edvard Marinovskij; Dorte Launholt Lildballe; Jenny Blechingberg; Morten Krogh Herlin
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Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations日本脑海绵状血管瘤患者中功能缺失型CCM基因变异
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IF2.3
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deleteTakahiro Hori; Satoshi Tsutumi; Kazutoshi Hashimoto; Taichi Ishiguro; Hidenori Ohbuchi; Yasunaga Yamamoto; Emi Nomura; Kenko Azuma; Yuichi Kubota; Hiroyuki Akagawa
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Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review液体活检和多癌种早期检测测试用于癌症筛查：一项范围综述
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IF2.3
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deleteTessa Robinson; Marian Saab; Lily Thao Nguyen; Pooja Kochar; Olivia Meggetto; Jill Tinmouth; Meghan J. Walker
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Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval阐明SET在9q34.11缺失综合征区间内作为神经发育障碍关键贡献者的作用
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IF2.3
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deleteAngelo Condell; Elaine Zhang; Tim Sikora; Sean Massey; Nicole J. Van Bergen; Min Wang; Cas Simons; Katrina M. Bell; Daniella H. Hock; David A. Stroud; David Francis; Wendy A. Gold; Martin B. Delatycki; John Christodoulou; Simranpreet Kaur
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Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita两种新型ACTC1变异导致先天性多关节挛缩症
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IF2.3
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deleteLauren Kerr; Pierre Moffatt; Lauren Hyer; Sarah Nossov; Noémi Dahan-Oliel; Frank Rauch
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Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights非典型产前表型谱：具有遗传和诊断见解的四例独特表现的病例系列
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deleteR. Sahithi Rathod; Geeta Kolar; Suseela Vavilala; Saritha Redishetty; Smita Pawar; Prathibha Reddy; Aditi Shah; Gayatri Nerakh
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Claudin-11–Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic MechanismsClaudin-11介导的少髓鞘化脑白质营养不良22：对致病机制的新的认识
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deleteFabio Acquaviva; Serena Troisi; Gabriella Errichiello; Carmela Russo; Eugenio Maria Covelli; Maria Anna Siano; Maria Rosaria Manna; Alfonsina Tirozzi; Daniele De Brasi; Antonio Varone
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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory在ReNU综合征中深度表型分析识别出一种可识别的年龄依赖性临床轨迹
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deleteNadja Pekkola Pacheco; Malin Kvarnung; Anna Hammarsjö; Daniel Nilsson; Bianca Tesi; Britt Marie Anderlid; Giedre Grigelioniene; Maria Johansson Soller; Liselot van der Laan; Charlotte Willfors; Charlotta Ingvoldstad Malmgren; Anna Lindstrand; Tommy Stödberg; Ann Nordgren; Angelica Maria Delgado-Vega
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