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The Application of Clinical Genetics
ISSN: 1178-704X
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Archive: Volume 15, 2022
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