Uniparental Disomy

Uniparental Disomy occurs when one inherits two homologous chromosomes from a single parent and can lead to genetic disorders. Discover the latest research on Uniparental Disomy here.

April 23, 2020
Review
Open Access

CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review

Cells
Linn Amanda SydingRadislav Sedlacek
April 8, 2020
Case Report
Open Access

Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21

Case Reports in Pediatrics
Eric WonDeborah E Schiff
July 14, 2020
Case Report

A rare cause of nephrotic syndrome

Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia
Remi George ThomasThirumalvalavan Murugesan
April 30, 2020
Open Access

Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory

Acta Obstetricia Et Gynecologica Scandinavica
Yi-Hui LinChris Tsai
June 11, 2020

Genetic testing on products of conception and its relationship with body mass index

Journal of Assisted Reproduction and Genetics
Linlin WangYingpu Sun
July 1, 2020
Review

The Distinct Role of the Extra-Large G Protein ɑ-Subunit XLɑs

Calcified Tissue International
Yan WangXiang Chen
June 24, 2020
Case Report

Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?

American Journal of Medical Genetics. Part a
Marina MacchiaioloAndrea Bartuli
June 12, 2020

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

American Journal of Medical Genetics. Part a
Diego A GomezOmar A Abdul-Rahman
August 6, 2020
Open Access

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Neurology. Genetics
Szabolcs SzelingerUCLA Clinical Genomics Center
May 18, 2020
Case Report
Open Access

Prenatal diagnosis of mosaicism for double trisomies of trisomy 11 and trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping ChenWayseen Wang
May 8, 2020
Review

Characterizing spine issues: if offers novel therapeutics to Angelman syndrome

Developmental Neurobiology
Xin Yang
June 12, 2020
Preprint
Open Access

The Ancient DNA Insights into Aboriginal Australian Mortuary Practices

BioRxiv : the Preprint Server for Biology
Sally WasefD. M. Lambert

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