Back to Journals » The Application of Clinical Genetics » Volume 11 » default

The Application of Clinical Genetics


Archive: Volume 11, 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

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

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

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