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List of works by Daniel L Polla

A Pilot Study to Evaluate the Oral Microbiome and Dental Health in Primary Open-Angle Glaucoma

scientific article

A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

scientific article published on 15 August 2019

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

scientific article published on 26 September 2019

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

scientific article published on 24 August 2017

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

scientific article published on 01 April 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

scientific article published on 12 June 2020

Donor Diabetes Mellitus Severity and Corneal Transplant Suitability in a US Eye Bank Donor Population

scientific article published on 01 October 2019

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

scientific article published on 26 July 2016

Exophthalmos in Kearns-Sayre syndrome

scientific article published on 31 May 2019

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

scientific article published on 24 October 2019

Perspectives from the front lines of COVID-19: New York City ophthalmology resident narratives

scientific article published on 17 July 2020

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

scientific article published on 26 March 2019

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

scientific article published on 18 September 2015

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

scientific article published on 01 December 2018

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