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Molecular Genetics and Genomic Medicine

IF1.6
论文数14
被引数3723
期刊论文 14
发表时间
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Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome测试阵列特征分析显示，与异常温和表型及良好预后相关的嵌合四体性9p24q22.3产前诊断。
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-10-01
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deleteLee, Crystle; Casey, Ellen; Amor, David J.
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New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical ReportGLI3基因中的新致病变异在首例与Pallister-Hall综合征相关的哥伦比亚患者中的发现：一份临床报告
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-10-01
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deleteBonilla-Navarrete, Sebastian; Prieto, Luis Eduardo; Carvajal, Laura Valentina; Olave-Rodriguez, Jorge Andres; Rodriguez-Rojas, Lisa Ximena; Nastasi-Catanese, Jose Antonio
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Phenotypic and Genetic Characteristics of 24 Cases of Early Infantile Epileptic Encephalopathy in East China, Including a Rare Case of Biallelic UGDH Mutations (vol 11,e2269,2023)华东地区24例早期婴儿癫痫性脑病表型与遗传特征分析（含1例罕见的UGDH基因双等位基因突变）（vol 11,e2269,2023）
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-24
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deleteJiang, L.; Bi, S.; Lin, L.; He, F.; Deng, F.
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Association Between KLF1, BCL11A and HBS1L-MYB Polymorphisms and Phenotypes With β-Thalassemia Patients in HainanKLF1、BCL11A和HBS1L-MYB多态性及其表型与海南β-地中海贫血患者的关系
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-24
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deleteHu, Junjie; Chen, Huaye; Gong, Wei; Feng, Min; Fu, Shidong; Xu, Weihua; Ma, Zhichao; Fu, Shengmiao; Chen, Xinping
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Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report家族性髋关节发育不良的遗传分析：一例与COMP基因杂合变异相关的病例报告
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-23
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deleteMiao, Yan; Li, Jiashan; Liang, Siying; Li, Shuo
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geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic DisordersgeneEX: 一种整合表型驱动的算法，用于快速识别单基因疾病的致病变异
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-22
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deleteZhang, Junyu; Liu, Dongyun; Chen, Mei; Fang, Yunqian; Dai, Kun; Zhu, Xiaoxi; Xu, Qingqing; Hou, Meiling; Wang, Li; Wang, Jianfeng; Zhang, Jun; Liang, Bo; Teng, Xiaoming
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Frequency and Spectrum of Actionable Secondary Findings in the Maltese Populationactionable二级发现的频率和谱系在马耳他人群中的研究
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-19
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deleteGrech, Laura; Grech, Celine Ann; Spiteri, Jasmine; Mintoff, Dillon; Pace, Nikolai Paul
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A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review一种新型TP63错义突变在SUMO化基序中导致孤立性分裂手/足畸形4：一个家系报告和文献综述
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IF1.6
delete2025-09-18
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deleteYang, Wei; Zhou, Jian; Si, Nuo; Zhang, Xue
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Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing通过全外显子测序鉴定四例遗传性眼病家系的变异
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-13
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deleteJarral, Afeefa; Basharat, Rabia; Sajid, Sundus; Arshad, Kinza; Ali, Imran; Ansar, Muhammad
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Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0先天性肌营养不良0型患者的产前超声检查发现
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-09
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deleteStokes, Stephanie; Snipes, Madeline; Moore, Lee D.; Schlabritz-Lutsevich, Natalia; Amy, Vidalin; Maher III, James
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De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis新发HNRNPU致病性变异与遗传性KANSL1功能缺失变异相关的发育性癫痫性脑病，通过RNA分析解决
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-09
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deleteAkimova, Daria; Guseva, Daria; Nefedova, Maria; Skoblov, Mikhail
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Chromosomal Abnormalities in Couples Experiencing Recurrent Implantation Failure in West of Iran: A Case-Control Study伊朗西部反复着床失败夫妇的染色体异常：一项病例对照研究
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-05
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deleteAsgari, Atefeh; Salehi, Amir Mohammad; Shahbazi, Fatemeh; Ghahremani, Safieh; Saleh, Ebrahim Kamrani
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46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome46,XY/46,XY 嵌合现象：产前表现与产后结局
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2025-09-05
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deleteBaqri, Wafa; Goh, Elaine S.; Berndl, Anne; Seesahai, Judy; Skidmore, Martin; Vaags, Andrea K.; Kekis, Mariana
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Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome
deleteMOLECULAR GENETICS & GENOMIC MEDICINE
IF1.6
delete2023-11-03
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deleteZheng, Zhoushu; Ding, Lu; Wang, Meihong; Zhang, Yinghui; Yang, Yihui; Tang, Ming; Xu, Jun; Wang, Liangjiong; Wu, Junhua; Li, Haibo
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