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Authors whose works are in public domain in at least one jurisdiction

List of works by Sarju G Mehta

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.

scientific article published on 26 October 2016

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

scientific article published on 23 April 2018

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

scientific article published on 29 August 2016

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

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