Tag : pedigree

Cardiology

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.

Newsemia
Related Articles A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. BMC Cardiovasc Disord. 2020...
Dermatology

Congenital atrichia with papular lesions.

Newsemia
Related Articles Congenital atrichia with papular lesions. Dermatol Online J. 2020 Apr 15;26(4): Authors: Hajare SA, Gavali S, Mukhi J, Singh RP Abstract Congenital atrichia...
Neurology

A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis.

Newsemia
Related Articles A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis. Parkinsonism Relat Disord. 2019 12;69:147-149 Authors: Stezin A, Chaithra SP, Holla...
Neurology

A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.

Newsemia
Related Articles A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson’s disease. Parkinsonism Relat Disord. 2019 12;69:134-137 Authors: Xie F, Chen S, Cen...
Cardiology

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

Newsemia
Related Articles Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. Clin Genet. 2019 12;96(6):549-559 Authors: Kühnisch J, Herbst C, Al-Wakeel-Marquard...
Cardiology

Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect.

Newsemia
Related Articles Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect. Circ Genom Precis Med. 2019 11;12(11):e002732 Authors: Xia...
Cardiology

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Newsemia
Related Articles Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. Mol Genet Genomic Med. 2019 Nov 23;:e1058...
Biology

Resequencing core accessions of a pedigree identifies derivation of genomic segments and key agronomic trait loci during cotton improvement.

Newsemia
Related Articles Resequencing core accessions of a pedigree identifies derivation of genomic segments and key agronomic trait loci during cotton improvement. Plant Biotechnol J. 2018...

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