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List of works by Sarah M Robbins

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

scientific article published on 9 November 2017

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes

scientific article published on 04 July 2019

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

scientific article

Language Access and Health Equity: Changes under the Affordable Care Act.

scientific article published on January 2016

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

scientific article

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

scientific article published on 07 March 2020

The NHGRI Short Course in Genomics: energizing genetics and genomics education in classrooms through direct engagement between educators and scientists

scientific article published on 15 September 2020

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