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The Application of Clinical Genetics
ISSN: 1178-704X
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- Volume 17, 2024 (4)
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- Volume 15, 2022 (16)
- Volume 14, 2021 (37)
- Volume 13, 2020 (23)
- Volume 12, 2019 (30)
- Volume 11, 2018 (23)
- Volume 10, 2017 (12)
- Volume 9, 2016 (22)
- Volume 8, 2015 (24)
- Volume 7, 2014 (23)
- Volume 6, 2013 (12)
- Volume 5, 2012 (13)
- Volume 4, 2011 (14)
- Volume 3, 2010 (15)
- Volume 2, 2009 (2)
- Volume 1, 2008 (3)
Archive: Volume 14, 2021
First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX
The Application of Clinical Genetics 2021, 14:473-479
Published Date: 16 December 2021
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam
Trieutien S, Vu Van T, Tran Ngoc Thao M, Trinh The S, Tran Van K, Nguyen Thanh T, Tran Van T, Nguyen Thi H
The Application of Clinical Genetics 2021, 14:467-472
Published Date: 9 December 2021
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
Jelsig AM, Byrjalsen A, Busk Madsen M, Kuhlmann TP, van Overeem Hansen T, Wadt KAW, Karstensen JG
The Application of Clinical Genetics 2021, 14:455-466
Published Date: 27 November 2021
The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
Miller CH
The Application of Clinical Genetics 2021, 14:445-454
Published Date: 23 November 2021
Genetic Testing in CYLD Cutaneous Syndrome: An Update
Nagy N, Dubois A, Szell M, Rajan N
The Application of Clinical Genetics 2021, 14:427-444
Published Date: 29 October 2021
Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
Kaleta B, Lachota M, Łukaszkiewicz J, Woźniacka A, Bogaczewicz J
The Application of Clinical Genetics 2021, 14:417-425
Published Date: 5 October 2021
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H
The Application of Clinical Genetics 2021, 14:409-416
Published Date: 5 October 2021
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
Triana-Fonseca P, Parada-Márquez JF, Silva-Aldana CT, Zambrano-Arenas D, Arias-Gomez LL, Morales-Fonseca N, Medina-Méndez E, Restrepo CM, Silgado-Guzmán DF, Fonseca-Mendoza DJ
The Application of Clinical Genetics 2021, 14:399-408
Published Date: 1 October 2021
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study
Kosztyła-Hojna B, Borys J, Zdrojkowski M, Duchnowska E, Kraszewska A, Wasilewska D, Zweier C, Midro AT
The Application of Clinical Genetics 2021, 14:389-398
Published Date: 6 September 2021
Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives
Sudhakar M, Rikhi R, Loganathan SK, Suri D, Singh S
The Application of Clinical Genetics 2021, 14:363-388
Published Date: 20 August 2021
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease
Kowdley DS, Kowdley KV
The Application of Clinical Genetics 2021, 14:353-361
Published Date: 12 August 2021
ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand
Boonyawat B, Monsereenusorn C, Photia A, Lertvivatpong N, Kaewchaivijit V, Jindatanmanusan P, Rujkijyanont P
The Application of Clinical Genetics 2021, 14:341-351
Published Date: 28 July 2021
Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt
ALrefai A, Dawood A, Shehata W, Elhelbawy M, Elhelbawy N
The Application of Clinical Genetics 2021, 14:331-339
Published Date: 26 July 2021
Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature
Papas RS, Kutteh WH
The Application of Clinical Genetics 2021, 14:321-329
Published Date: 23 July 2021
Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene
Trinh The S, Trieu Tien S, Vu Van T, Nguyen Ngoc N, Tran Ngoc Thao M, Tran Van K, Vu Nhat D, Do Nhu B
The Application of Clinical Genetics 2021, 14:313-319
Published Date: 14 July 2021
Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype
Payán-Gómez C, Ramirez-Cheyne J, Saldarriaga W
The Application of Clinical Genetics 2021, 14:305-312
Published Date: 5 July 2021
NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia
Headriawan A, Pramono AA, Sukadi A, Chairulfatah A, Maskoen AM, Nataprawira HM
The Application of Clinical Genetics 2021, 14:297-303
Published Date: 3 June 2021
Mutations Involved in Premature-Ageing Syndromes
Coppedè F
The Application of Clinical Genetics 2021, 14:279-295
Published Date: 2 June 2021
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H
The Application of Clinical Genetics 2021, 14:267-277
Published Date: 1 June 2021
A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer
King B, McHugh J, Snape K
The Application of Clinical Genetics 2021, 14:255-266
Published Date: 20 May 2021
Genetic Predictors of Mortality in Patients with Multiple Myeloma
Hassan H, Szalat R
The Application of Clinical Genetics 2021, 14:241-254
Published Date: 29 April 2021
Pseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported
Zaimi Y, Ayari M, Mensi A, Bel Hadj Kacem L, Achouri L, Bouzrara M, Said Y, Mouelhi L, Debbeche R
The Application of Clinical Genetics 2021, 14:235-239
Published Date: 15 April 2021
GM1 Gangliosidosis: Mechanisms and Management
Rha AK, Maguire AS, Martin DR
The Application of Clinical Genetics 2021, 14:209-233
Published Date: 9 April 2021
The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia
Sirkis DW, Bonham LW, Yokoyama JS
The Application of Clinical Genetics 2021, 14:195-207
Published Date: 31 March 2021
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
Seixas S, Marques PI
The Application of Clinical Genetics 2021, 14:173-194
Published Date: 22 March 2021
Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases
Dorschel KB, Wanebo JE
The Application of Clinical Genetics 2021, 14:145-171
Published Date: 18 March 2021
The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos
Mostafa Nayel D, Salah El Din Mahrous H, El Din Khalifa E, Kholeif S, Mohamed Elhady G
The Application of Clinical Genetics 2021, 14:125-144
Published Date: 11 March 2021
Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension
Egom EE, Moyou-Somo R, Essame Oyono JL, Kamgang R
The Application of Clinical Genetics 2021, 14:113-124
Published Date: 11 March 2021
Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma
Kondkar AA
The Application of Clinical Genetics 2021, 14:89-112
Published Date: 9 March 2021
Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern]
Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P
The Application of Clinical Genetics 2021, 14:87-88
Published Date: 5 March 2021
A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India
Chauhan W, Afzal M, Zaka-ur-Rab Z, Noorani MS
The Application of Clinical Genetics 2021, 14:77-85
Published Date: 1 March 2021
Genetic Factors Underlying Sudden Infant Death Syndrome
Keywan C, Poduri AH, Goldstein RD, Holm IA
The Application of Clinical Genetics 2021, 14:61-76
Published Date: 15 February 2021
Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations
Rabinowitz MJ, Huffman PJ, Haney NM, Kohn TP
The Application of Clinical Genetics 2021, 14:51-59
Published Date: 12 February 2021
The Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance
Asri N, Rostami-Nejad M, Anderson RP, Rostami K
The Application of Clinical Genetics 2021, 14:37-50
Published Date: 11 February 2021
A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People
Pham TTH, Tran QB, Sukasem C, Nguyen VD, Chu CH, Do TQN, Tran NPM, Phung TH
The Application of Clinical Genetics 2021, 14:27-35
Published Date: 9 February 2021
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Keinath MC, Prior DE, Prior TW
The Application of Clinical Genetics 2021, 14:11-25
Published Date: 25 January 2021
Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers
McAlarnen L, Stearns K, Uyar D
The Application of Clinical Genetics 2021, 14:1-9
Published Date: 14 January 2021