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Lista de obras de Pankaj B Agrawal

A curated gene list for reporting results of newborn genomic sequencing.

artículo científico publicado en 2017

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

artículo científico publicado en 2021

Deciphering congenital anomalies for the next generation

scientific article published on 21 August 2020

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

artículo científico publicado en 2022

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

scientific article published on 01 February 2019

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene

artículo científico publicado en 2017

Newborn Sequencing in Genomic Medicine and Public Health

artículo científico publicado en 2017

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

artículo científico publicado en 2021

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