Tag : Variants

Cardiology

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.

Newsemia
Related Articles Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genet Med. 2020 Sep...
Neurology

Neuropsychological Similarities and Differences Between Amnestic Alzheimer's Disease and its Non-Amnestic Variants.

Newsemia
Related Articles Neuropsychological Similarities and Differences Between Amnestic Alzheimer’s Disease and its Non-Amnestic Variants. J Alzheimers Dis. 2019;69(3):849-855 Authors: Mendez MF, Monserratt LH, Liang LJ,...
Neurology

Expansion of the phenotype of biallelic variants in TRIT1.

Newsemia
Related Articles Expansion of the phenotype of biallelic variants in TRIT1. Eur J Med Genet. 2020 Jun;63(6):103882 Authors: Forde KM, Molloy B, Conroy J, Green...
Latest News

Genetic variants of human ACE2 are differentially recognized by SARS-CoV-2

Newsemia
Scientists at the University of Wisconsin reveals that the genetic variants of human angiotensin 2 (ACE2) receptors can have altered recognition by severe acute respiratory...
Latest News

Macula-predominant retinopathy associated with biallelic variants inRDH12

Newsemia
Ba-Abbad, R; Arno, G; Robson, AG; Bouras, K; Georgiou, M; Wright, G; Webster, AR; Ba-Abbad, R; Arno, G; Robson, AG; Bouras, K; Georgiou, M; Wright,...
Neurology

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

Newsemia
Related Articles Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 Sep 04;: Authors: DiBacco ML, Pop A, Salomons GS, Hanson E,...
Cardiology

Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.

Newsemia
Related Articles Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants. Int Heart J. 2020 Sep 02;: Authors: Miura A, Kondo...
Dentistry

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Newsemia
Related Articles Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. Eur J Med Genet. 2020...

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