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Application of Clinical Genetics cover

Application of Clinical Genetics

IF2.8
Papers38
Citations874
Journal Papers 38
Publication Date
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Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing
deleteApplication of Clinical Genetics
IF2.8
delete2026-09-11
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deleteTingting Liu, Mingtao Huang, Min Dai, Yixuan Liang, Cuiping Zhang, Jianxin Tan, Fengchang Qiao, Yan Wang
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Radiological Findings and Genetic Rearrangements in Paediatric Patients with Acute Lymphoblastic Leukaemia
deleteApplication of Clinical Genetics
IF2.8
delete2026-08-21
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deleteAgata Rocka; Maria Suchcicka; Magdalena Maria Woźniak; Monika Lejman
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Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China
deleteApplication of Clinical Genetics
IF2.8
delete2026-07-21
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deleteLulu Meng; Yan Wang; Junqiang Zhang; Ran Zhou; Xingxing Wang; Fengchang Qiao; Qinxin Zhang; Cheng Wan; Shujing Jiao; Ping Hu; Zhengfeng Xu
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Generalized Nevus Lipomatosus Cutaneous Superficialis: A Case Report with Comprehensive Genetic Analysis
deleteApplication of Clinical Genetics
IF2.8
delete2026-07-08
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deleteYe Qiu, Rina Su, Xiangxi Su, Yankun Zhang, Yaqi Tan, Xiuying Zhang, Fang Liu
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Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent
deleteApplication of Clinical Genetics
IF2.8
delete2026-01-01
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deleteAlquaimi, Manal Mubarak
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TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates
deleteApplication of Clinical Genetics
IF2.8
delete2026-01-01
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deleteNguyen, Ha Minh; Le, Duong Hoang Huy; Ho, Tham Thi Hong; Nguyen, Phuc Doan Huynh Anh; Nguyen, Thinh Hung; Phan, Van Nguyen Thanh; Nguyen, Tuan Huu Ngoc
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Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations
deleteapplication of clinical genetics
IF0
delete2025-07-31
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deleteLinh Tu Le; Nhung Viet Nguyen; Huy Le Trinh; Quang Van Le; Trang Huyen Thi Dao; Son Nguyen Ngoc; Luong Dinh Van; Trang Thi Nguyen
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A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q – “Case Report”
deleteapplication of clinical genetics
IF0
delete2025-07-29
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deleteNour Abi Chakra; Nadine Yazbeck; Mohammad Omar Fattah; Rima Hanna-Wakim
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Long-Term Donor Chimerism Monitoring for Relapse Risk Assessment After Pediatric Allo-HSCT
deleteapplication of clinical genetics
IF0
delete2025-07-24
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deleteAnna Prażmo; Paulina Skowera; Agnieszka Zaucha-Prazmo; Monika Lejman
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The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian Reserve
deleteapplication of clinical genetics
IF0
delete2025-07-12
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PREAI
deleteThuy Thi Thanh Hoang; Son The Trinh; Nhat Ngoc Nguyen; Minh Nguyet Ho; Minh Dinh Pham; Nhung Thi Hoang; Sang Tien Trieu; Hung Sy Ho
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Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy
deleteapplication of clinical genetics
IF0
delete2025-07-10
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deleteShengyang Liu; Linghui Meng; YuZhu Wan; Shanfeng Liu; Li Shi
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A Systematic Review of SNPs Screening for Platinum-Related Pharmacodynamics and Pharmacokinetics Genes in Non-Small Cell Lung Cancer for Precision Medicine
deleteapplication of clinical genetics
IF0
delete2025-06-27
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deleteNadiya Nurul Afifah; Annisa Lazuardi Larasati; Indra Wijaya; Neily Zakiyah; Ruri Intania; Hideru Obinata; Melisa Intan Barliana
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Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13; 18; and 21 in Prenatal Diagnosis Among East Chinese Han Population
deleteapplication of clinical genetics
IF0
delete2025-06-12
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deleteYingwen Liu; Jiangyang Xue; Lulu Yan; Changshui Chen; Shumin Zhao; Haibo Li
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Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes
deleteapplication of clinical genetics
IF0
delete2025-06-05
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deleteAli M Sawlan; Msaed Alotaibi; Rayan M Alharbi; Nimr A Alwahbi; Manar Alshammary; Ali Mohammad Alasmari; Fuad Al Mutairi
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A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi–Hünermann–Happle Syndrome Presenting with Hydronephrosis
deleteapplication of clinical genetics
IF0
delete2025-05-14
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deleteFengchang Qiao; Huasha Zeng; Cuiping Zhang, Yan Wang, Yuguo Wang, Ran Zhou, Lulu Meng, Ping Hu, Zhengfeng Xu
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The Frequency of CYP2C19*2 Gene Polymorphisms in Burkina Faso Patients Treated with Clopidogrel
deleteapplication of clinical genetics
IF0
delete2025-05-01
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deleteYves Donald Kagambèga; Abdoul Karim Ouattara; Teega-Wendé Clarisse Ouédraogo; Lassina Traoré; Nobila Valentin Yaméogo; Jacques Simpore
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NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
deleteapplication of clinical genetics
IF0
delete2025-04-26
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deleteFco Javier Fernández Martínez; M Mar Gil Mira; Cristina González González; Irene Madrigal Bajo; Raluca Oancea Ionescu; Carmen Orellana Alonso; The group of experts agreed with the AEDP (Spanish Association of Prenatal Diagnosis) and AEGH (Spanish Association of Human Genetics):Fco. Javier Fernández Martínez, M. Mar Gil Mira, Cristina González González, Irene Madrigal Bajo, Raluca Oancea Ionescu, Carmen Orellana Alonso On behalf of the group of experts agreed with the AEDP (Spanish Association of Prenatal Diagnosis) and AEGH (Spanish Association of Human Genetics)
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Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam
deleteapplication of clinical genetics
IF0
delete2025-04-11
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deleteSang Tien Trieu; Minh Duc Pham; Hoang Le; Hien Van Vo; Phong Van Nguyen; Tuan Van Tran; Nhat Ngoc Nguyen; Son The Trinh
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Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience
deleteapplication of clinical genetics
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delete2025-02-14
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deleteBeáta Vida; Olga Török; Enikő Felszeghy; Mónika Orosz; Zoárd Tibor Krasznai; Zoltán Tándor; Attila Jakab; Tamás Deli
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Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports
deleteapplication of clinical genetics
IF0
delete2025-01-28
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deleteMatthew Gordon; Andrew J Gangemi; Eric L Sandwith; Maruti Kumaran; Friedrich Kueppers
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