Search filters

List of works by Avni Santani

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

scientific article

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

scientific article published on 26 May 2016

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.

scientific article published on 26 May 2016

Paulina is supported by:

About Paulina

Help