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The Application of Clinical Genetics
ISSN: 1178-704X
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Archive: Volume 11, 2018
Adult-onset type II citrullinemia: Current insights and therapy
Hayasaka K, Numakura C
The Application of Clinical Genetics 2018, 11:163-170
Published Date: 12 December 2018
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H
The Application of Clinical Genetics 2018, 11:157-162
Published Date: 23 November 2018
Novel ATP7A gene mutation in a patient with Menkes disease
Caicedo-Herrera G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM
The Application of Clinical Genetics 2018, 11:151-155
Published Date: 22 November 2018
The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population
Abu-Siniyeh A, Khabour OF, Owais AI
The Application of Clinical Genetics 2018, 11:145-149
Published Date: 21 November 2018
The genetics of congenital central hypoventilation syndrome: clinical implications
Bishara J, Keens TG, Perez IA
The Application of Clinical Genetics 2018, 11:135-144
Published Date: 15 November 2018
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis
Alsemari A, Alsuhaibani M, Alhathlool R, Ali BM
The Application of Clinical Genetics 2018, 11:129-134
Published Date: 8 November 2018
Association of mitochondrial DNA copy number with self-rated health status
Takahashi PY, Jenkins GD, Welkie BP, McDonnell SK, Evans JM, Cerhan JR, Olson JE, Thibodeau SN, Cicek MS, Ryu E
The Application of Clinical Genetics 2018, 11:121-127
Published Date: 25 October 2018
Pena-Shokeir syndrome: current management strategies and palliative care
Adam S, Coetzee M, Honey EM
The Application of Clinical Genetics 2018, 11:111-120
Published Date: 25 October 2018
Aortic calcification in Gaucher disease: a case report
Alsahli S, Bubshait DK, Rahbeeni ZA, Alfadhel M
The Application of Clinical Genetics 2018, 11:107-110
Published Date: 17 October 2018
IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance
Yousef AA, Behiry EG, Abd Allah WM, Hussien AM, Abdelmoneam AA, Imam MH, Hikal DM
The Application of Clinical Genetics 2018, 11:99-106
Published Date: 28 September 2018
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
Carneiro TNR, Krepischi ACV, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C
The Application of Clinical Genetics 2018, 11:93-98
Published Date: 22 August 2018
Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
Ribeiro MG, Zunta GL, Santos JS, Moraes AM, Lima CSP, Ortega MM
The Application of Clinical Genetics 2018, 11:89-92
Published Date: 10 August 2018
Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia
El Shafae MM, Sabry JH, Behiry EG, Sabry HH, Salim MA, Fayez AG
The Application of Clinical Genetics 2018, 11:81-87
Published Date: 19 July 2018
Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
Ochando I, Alonzo Martínez MC, Serrano AM, Urbano A, Cazorla E, Calvo D, Rueda J
The Application of Clinical Genetics 2018, 11:77-80
Published Date: 3 July 2018
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
The Application of Clinical Genetics 2018, 11:75-76
Published Date: 31 May 2018
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H
The Application of Clinical Genetics 2018, 11:69-73
Published Date: 25 May 2018
Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients
Shah ND, Shah PS, Panchal YY, Katudia KH, Khatri NB, Ray HSP, Bhatiya UR, Shah SC, Shah BS, Rao MV
The Application of Clinical Genetics 2018, 11:59-67
Published Date: 9 May 2018
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM
The Application of Clinical Genetics 2018, 11:45-57
Published Date: 24 April 2018
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review
Alrukban H, Chitayat D
The Application of Clinical Genetics 2018, 11:31-44
Published Date: 20 April 2018
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children
Traivaree C, Boonyawat B, Monsereenusorn C, Rujkijyanont P, Photia A
The Application of Clinical Genetics 2018, 11:23-30
Published Date: 3 April 2018
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D
The Application of Clinical Genetics 2018, 11:15-21
Published Date: 23 March 2018
Tetrasomy 18p: case report and review of literature
Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M
The Application of Clinical Genetics 2018, 11:9-14
Published Date: 8 February 2018
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
Yang L, Ijaz I, Cheng J, Wei C, Tan X, Khan MA, Fu X, Fu J
The Application of Clinical Genetics 2018, 11:1-8
Published Date: 19 December 2017