Whole Exome Sequencing in a Patient With Uniparental Disomy of Chromosome 2 and a Complex Phenotype

Clinical Genetics - United Kingdom
doi 10.1111/cge.12064
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Wiley

Related search

Causal Variants Screened by Whole Exome Sequencing in a Patient With Maternal Uniparental Isodisomy of Chromosome 10 and a Complicated Phenotype

Experimental and Therapeutic Medicine
MedicineCancer ResearchImmunologyMicrobiology
2016English

Segmental Uniparental Disomy of Chromosome 4 in a Patient With Methylmalonic Acidemia

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Paternal Uniparental Disomy of Chromosome 13

2020English

Maternal Uniparental Disomy of Chromosome 20

2020English

Paternal Uniparental Disomy of Chromosome 1

2020English

Maternal Uniparental Disomy of Chromosome 16

2020English

Maternal Uniparental Disomy of Chromosome 4

2020English

Maternal Uniparental Disomy of Chromosome 22

2020English

Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q

Journal of Bone and Mineral Research
EndocrinologyOrthopedicsSports MedicineMetabolismDiabetes
2017English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy