Search filters

List of works by Tomi L Toler

Detecting celiac disease in patients with Down syndrome

scientific article published on 08 September 2016

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

scientific article published on 14 November 2013

NIPT: current utilization and implications for the future of prenatal genetic counseling.

scientific article published on 27 April 2014

National down syndrome patient database: Insights from the development of a multi-center registry study

scientific article published on 06 August 2015

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

scientific article published on 24 October 2019

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome

scientific article published on 21 February 2020

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

scientific article

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

scientific article published on 13 December 2012

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study

scientific article published on 23 March 2017

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

scientific article published on 24 September 2018

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

scientific article published on 17 August 2016

Paulina is supported by:

About Paulina

Help