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Lista de obras de Kit Doudney

Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients.

artículo científico publicado en 2005

Autosomal-dominant ankyloglossia and tooth number anomalies

scientific article published on 30 December 2009

Comparing the variants of takotsubo syndrome: an observational study of the ECG and structural changes from a New Zealand tertiary hospital

article

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

artículo científico publicado en 2018

Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy

article

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

artículo científico publicado en 2003

Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

article

Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers

scientific article published on 10 March 2015

G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter

artículo científico publicado en 2014

Genomic organization and embryonic expression of Igsf8, an immunoglobulin superfamily member implicated in development of the nervous system and organ epithelia

artículo científico publicado en 2003

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

artículo científico publicado en 2012

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression

artículo científico publicado en 2007

Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate-induced weight gain

artículo científico publicado en 2009

Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line

artículo científico publicado en 2015

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