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The Application of Clinical Genetics

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论文数20
被引数
期刊论文 25
发表时间
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Genealogical Identification and Short Tandem Repeat-Based Verification of Suspected Consanguinity in Mongolian Families蒙古家族中疑似近亲关系的系谱鉴定和基于短串联重复序列的验证
deleteThe Application of Clinical Genetics
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delete2026-07-09
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deleteAltansukh Tsend-Ayush; Suvd Tumurbaatar; Buyandelger Baatar; Erdenetuya Ganbaatar; Oyunsuren Davaasuren; Byambasuren Dagvajantsan; Myagmartseren Dashtseren; Tsolmon Unurjargal; Khurelbaatar Nyamdavaa; Sarantuya Jav; Battogtokh Chimeddorj
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A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella一种新型深内含子CFAP44变异导致精子鞭毛多种形态学异常
deleteThe Application of Clinical Genetics
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delete2026-06-24
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deleteYaxian Ma; Yuecheng Yang; Tong Zhang; Daoheng Hu; Yuancun Zhao; Xuancheng Mai; Junxue Ni; Jie Zhang
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Precise Reproductive Counseling Enabled by Long-Read Sequencing in a Case of a F8 Intron 1 Inversion and Duplication通过长读长测序实现的一例F8基因内含子1倒位和重复的精准生殖咨询
deleteThe Application of Clinical Genetics
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delete2026-06-17
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deleteYuying Yan; Pengzhen Jin; Lidan Xu; Ya Ma; Minyue Dong
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Genetic Polymorphisms of Transforming Growth Factor Receptors (TGF-βRI; TGF-βRII) and Risk Factors Associated with Keloid Scars in Burkina Faso: A Cross-Sectional Study转化生长因子受体（TGF-βRI; TGF-βRII）的遗传多态性及与布基纳法索瘢痕疙瘩瘢痕相关风险因素：一项横断面研究
deleteThe Application of Clinical Genetics
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delete2026-05-15
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deleteKoffi Agbessi Keto; Danielle Belemsigri; Serge Theophile Soubeiga; Marcelin Bonkoungou; Hadiaratou Nafore Badiala Gadiaga; Bibata Compaore; Pegdwinde Abel Sorgho; Albert Theophane Yonli; Wendkuuni Florencia Djigma; Jacques Simpore; Pascal Niamba
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Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age; Fetal Fraction; and No-Call Rates早期孕早期无创产前检测的临床可行性：孕周、胎儿游离DNA比例和无检测结果率的关联
deleteThe Application of Clinical Genetics
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delete2026-04-29
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deleteTrinh The Son; Sang Trieu Tien; Tran Van Khoa; Hung Sy Ho; Hien Le Thi Thu; Nhat Ngoc Nguyen; Dang Thai Son; Phong Nguyen Van; Minh Duc Pham; Hang Thi Doan
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Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2; 15q11.2; 1p36; 4p; or 5p: A Retrospective Cohort Study22q11.2、15q11.2、1p36、4p或5p微缺失筛查阳性妊娠的结局与管理：一项回顾性队列研究
deleteThe Application of Clinical Genetics
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delete2026-04-16
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deleteD Claire Miller, Devika Chawla, Summer Pierson, Katherine Johansen Taber
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Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder原发性纤毛运动障碍（PCD）的两种不同临床表型：全外显子组测序在遗传异质性疾病中的诊断应用价值
deleteThe Application of Clinical Genetics
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delete2026-04-02
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deleteMateusz Górecki; Ilona Jaszczuk; Monika Lejman
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Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series产前超声及遗传学诊断两例胎儿EFTUD2单倍剂量不足：病例系列研究
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delete2026-03-27
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deleteAgata Kucińska; Lech Dudarewicz; Beata Anna Nowakowska; Maciej Geremek; Urszula Wysocka; Łukasz Przesór; Dobromiła Barańska; Piotr Grzelak; Agnieszka Gach
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Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient病例报告：Schaaf-Yang综合征的轻度表型，由于潜在致病性新型错义变异，成为儿科患者肥胖的罕见原因。
deleteThe Application of Clinical Genetics
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delete2026-03-09
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deleteDalibor Pastucha; Darina Aleksijevic; Jiri Hyjanek; Ondrej Vesely; Eva Klaskova; Kristyna Kolarikova; Radek Vodicka
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Hearing; Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) – Case Study听力；一名10岁患有面肩胛肱肌营养不良（FSHD）男孩的声音和言语障碍——案例研究
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delete2026-03-07
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deleteEmilia Duchnowska; Bożena Kosztyła-Hojna; Maciej Zdrojkowski; Sarah Burton-Jones; Wojciech Kułak
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Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins2型家族性部分性脂肪营养不良的变异性表达与致病性LMNA变异R482相关：经母系遗传至非同卵双胞胎
deleteThe Application of Clinical Genetics
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delete2026-02-13
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deletePaola Andrea Duque-Cordoba; Lorena Diaz-Ordoñez; Laura Carvajal-del-Castillo; Daniela Marmolejo; Andres Felipe Leal; Harry Pachajoa
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Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
deleteThe Application of Clinical Genetics
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delete2026-01-22
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deleteGuobing Zheng; Chenxia Xu; Fenghua Xie; Qiaoli Li; Zhanhui Ou; Degang Wang; Haijun Li
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Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis
deleteThe Application of Clinical Genetics
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delete2026-01-14
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deleteUrszula Wysocka; Jolanta Stępniewska; Magdalena Kozłowska; Agata Kucińska; Patrycja Banaś-Leżańska; Wojciech Ałaszewski; Lech Dudarewicz; Piotr Kaczmarek; Mariusz Stanisław Grzesiak; Agnieszka Gach
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A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases查尔斯沃克斯-萨格奈共济失调症中SACS基因的一种新型外显子重复及波兰病例的总结
deleteThe Application of Clinical Genetics
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delete2025-12-24
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deleteJakub P Fichna; Ewelina Elert-Dobkowska; Wiktoria Radziwonik-Fraczyk; Karolina Ziora-Jakutowicz; Michalina Maria Wężyk; Mariusz Berdyński; Jacek Zaremba; Cezary Żekanowski; Małgorzata Bednarska-Makaruk
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Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in ChinaY染色体微缺失与2010年中国2010例不育男性患者生殖特征的相关性
deleteThe Application of Clinical Genetics
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delete2025-12-23
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deleteGangxin Chen; Pengyu Huang; Haiyan Li; Beihong Zheng; Yan Sun
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Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings部分21号染色体长臂21q单体综合征，由新发t(15;21)(q26.3;q22.11)易位导致：一份包含临床及分子学发现的病例报告
deleteThe Application of Clinical Genetics
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delete2025-12-19
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deleteSomayeh Takrim Nojehdeh; Tannaz Fattahi; Sara Arish; Haleh Mokabber; Ramiz Nobakht; Sana Davarnia; Behzad Davarnia
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The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study整合拷贝数改变谱在NPM1突变急性髓系白血病中的预后价值：一项探索性研究
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delete2025-12-04
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deleteChunxia Zhang; Li Gao; Ming Gong, Chundi Liu, Dongmei Zhang, Zhenling Li
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Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy逐步诊断策略整合长读长测序，用于解释肌营养不良症中的表型-基因型不一致性
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delete2025-11-25
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deleteQingyue Yuan, Chang Liu, Yanyu Lu, Xu Han, Zhaoxia Wang, Yun Yuan; Zhiying Xie
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The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels; β-Thalassemia Pathogenic Variant (CD39 C>T); and a Novel δ-Globin Gene Deletion隐性地中海贫血：一例血红蛋白A2水平正常的患者，伴有致病性β-地中海贫血变异（CD39 C>T）和一个新型δ-珠蛋白基因缺失。
deleteThe Application of Clinical Genetics
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delete2025-11-12
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deleteMassimiliano Chetta; Annamaria Salamandra; Marina Tarsitano; Marcella D’Antonio; Elvira Sannino; Serena Torre; Carmina Fatigati; Silvia Costantini; Paola D’Ambrosio; Manuela Priolo; Paolo Ricchi
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Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future沙特阿拉伯王国非侵入性产前检测：当前采用状况及未来路线图
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delete2025-10-27
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deleteMajid Alfadhel; Amal AlHashem; Wesam Kurdi; Maha Tulbah; Saleh AlGamdi; Mohammed Almannai; Iman AlAmoudi; Mariam M AlEissa; Nada AlAgil; Soha Tashkandi; Nancy Awad; Rita Ojeil
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