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The Application of Clinical Genetics
ISSN: 1178-704X
- View all (279)
- Volume 16, 2023 (10)
- 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)
Journal Articles:
- 279 records -
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?
Ail D, Malki H, Zin EA, Dalkara D
The Application of Clinical Genetics 2023, 16:111-130
Published Date: 30 May 2023
Profile of BRAFV600E, BRAFK601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital
Harahap AS, Subekti I, Panigoro SS, Asmarinah, Lisnawati, Werdhani RA, Agustina H, Khoirunnisa D, Mutmainnah M, Salinah, Siswoyo AD, Ham MF
The Application of Clinical Genetics 2023, 16:99-110
Published Date: 25 May 2023
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Diderich KEM, Klapwijk JE, van der Schoot V, Brüggenwirth HT, Joosten M, Srebniak MI
The Application of Clinical Genetics 2023, 16:89-97
Published Date: 15 May 2023
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report
Scherz A, Stoll S, Rothlisberger B, Rabaglio M
The Application of Clinical Genetics 2023, 16:83-87
Published Date: 11 May 2023
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E
The Application of Clinical Genetics 2023, 16:63-81
Published Date: 24 April 2023
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
Rodriguez-Rojas LX, Candelo E, Pachajoa H, Garcia-Robledo JE, Nastasi-Catanese JA, Olave-Rodriguez JA, Zambrano AR
The Application of Clinical Genetics 2023, 16:53-62
Published Date: 18 April 2023
Prader-Willi and Angelman Syndromes: Mechanisms and Management
Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP
The Application of Clinical Genetics 2023, 16:41-52
Published Date: 6 April 2023
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives
Senftleber NK, Ramne S, Moltke I, Jørgensen ME, Albrechtsen A, Hansen T, Andersen MK
The Application of Clinical Genetics 2023, 16:31-39
Published Date: 23 March 2023
Genetic Links to Episodic Movement Disorders: Current Insights
Garg D, Mohammad S, Shukla A, Sharma S
The Application of Clinical Genetics 2023, 16:11-30
Published Date: 1 March 2023
Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office’s Report
Patryn R, Zagaja A, Drozd M
The Application of Clinical Genetics 2023, 16:1-10
Published Date: 20 January 2023
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations
Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S
The Application of Clinical Genetics 2022, 15:153-170
Published Date: 21 October 2022
Prenatal Sonographic Features of Rare Chromosome 13 Aberrations
Moczulska H, Pietrusinski M, Serafin M, Skoczylas B, Sieroszewski P, Borowiec M
The Application of Clinical Genetics 2022, 15:145-151
Published Date: 3 October 2022
Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia
Chuansumrit A, Sasanakul W, Sirachainan N, Santiwatana S, Kadegasem P, Wongwerawattanakoon P, Tungbubpha N, Chantaraamporn J
The Application of Clinical Genetics 2022, 15:133-143
Published Date: 1 October 2022
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes
Maurer MH, Kohler A, Hudemann M, Jüngling J, Biskup S, Menzel M
The Application of Clinical Genetics 2022, 15:125-131
Published Date: 2 September 2022
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT
The Application of Clinical Genetics 2022, 15:111-123
Published Date: 12 August 2022
Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer
Elabd NS, Soliman SE, Elhamouly MS, Gohar SF, Elgamal A, Alabassy MM, Soliman HA, Gadallah AA, Elbahr OD, Soliman G, Saleh AA
The Application of Clinical Genetics 2022, 15:97-109
Published Date: 1 August 2022
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study
Pylypjuk CL, Memon SF, Chodirker BN
The Application of Clinical Genetics 2022, 15:87-95
Published Date: 26 July 2022
Deregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients
Tayel SI, Soliman SE, Ahmedy IA, Abdelhafez M, Elkholy AM, Hegazy A, Muharram NM
The Application of Clinical Genetics 2022, 15:69-85
Published Date: 16 July 2022
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity
Giraldo-Ocampo S, Pacheco-Orozco RA, Pachajoa H
The Application of Clinical Genetics 2022, 15:63-68
Published Date: 6 July 2022
Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women
Nguyen Ngoc N, Tran Ngoc Thao M, Trieu Tien S, Vu Tung S, Le H, Ho Sy H, Nguyen Thanh T, Trinh The S
The Application of Clinical Genetics 2022, 15:55-62
Published Date: 7 June 2022
Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?
Sasanakul W, Chuansumrit A, Sirachainan N, Kadegasem P
The Application of Clinical Genetics 2022, 15:49-54
Published Date: 19 May 2022
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example
Yang Y, Wang Y, Zhou L, Long W, Yu B, Wang H
The Application of Clinical Genetics 2022, 15:39-48
Published Date: 18 May 2022
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation
Pasińska M, Łazarczyk E, Repczyńska A, Sobczyńska-Tomaszewska A, Zimowski J, Runge A, Haus O
The Application of Clinical Genetics 2022, 15:27-38
Published Date: 14 May 2022
CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus
Rochmah N, Faizi M, Nova S, Setyoningrum RA, Basuki S, Endaryanto A
The Application of Clinical Genetics 2022, 15:19-25
Published Date: 29 April 2022
HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus
Soetjipto, Rochmah N, Faizi M, Hisbiyah Y, Endaryanto A
The Application of Clinical Genetics 2022, 15:11-17
Published Date: 12 January 2022
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O
The Application of Clinical Genetics 2022, 15:1-10
Published Date: 6 January 2022
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