Date: 16 February 2021

Whole exome sequencing uncovered

Epidermodysplasia verruciformis (EV) is a rare disease of the skin, characterized by abnormal susceptibility

Date: 19 February 2021

Long-Read Sequencing Improves

The advent of long-read sequencing offers a new assessment method of detecting genomic

Date: 25 September 2020

An Exploration of Physical and Phenotypic

This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum

Date: 28 April 2019

HER2+ Breast cancer

A newly developed drug trastuzumab emtansine (T-DM1) has improved the survival of breast

Date: 2017

Tree Man Syndrome

Epidermodysplasia verruciformis (EV) is a rare disease of the skin, characterized by abnormal susceptibility

Date: 2018

DETECTION OF CLINICALLY RELEVANT COPY

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Due to long term

Date: 2019

Novel mutations in actionable breast

Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway

Date: August 2019

Gonadal mosaicism

Intellectual disability (ID) is a complex condition that can impact multiple domains of development

Date: 2020

ADVANCES IN MOLECULAR PATHOLOGY

Neurodevelopmental disorders (NDD) refer to a collection of rare disorders that manifest during

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