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The Application of Clinical Genetics


Archive: Volume 11, 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

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