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Lista de obras de Pin Fee Chong

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

artículo científico publicado en 2014

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.

artículo científico publicado en 2016

Cytotoxic lesion of the corpus callosum exclusively at the genu in a case of callosal hypogenesis

scientific article published on 27 November 2018

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

article

Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.

artículo científico publicado en 2014

Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation

scientific article published on 12 February 2016

Long surviving classical Menkes disease treated with weekly intravenous copper therapy

scientific article published on 01 May 2019

Mulberries in the urine: a tell-tale sign of Fabry disease

artículo científico publicado en 2018

Water immersion-induced skin wrinkling test in complex regional pain syndrome

artículo científico publicado en 2015

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