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Lista de obras de Marisa A Vineyard

A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations

artículo científico publicado en 2015

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

scientific article published on 28 February 2019

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures

artículo científico publicado en 2018

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

artículo científico publicado en 2017

Is low-grade serous ovarian cancer part of the tumor spectrum of hereditary breast and ovarian cancer?

artículo científico publicado en 2010

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

artículo científico publicado en 2020

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

artículo científico publicado en 2013

Variants in DOCK3 cause developmental delay and hypotonia

artículo científico publicado en 2019

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

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