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List of works by Miguel Leão

A tryptophanol-derived oxazolopiperidone lactam is cytotoxic against tumors via inhibition of p53 interaction with murine double minute proteins.

scientific article published on 23 March 2015

Alsin related disorders: literature review and case study with novel mutations.

scientific article

BSCL2N88S mutation in A Portuguese patient with the Silver syndrome

article

Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype

scientific article

Brain Herniation into the Dural Venous Sinus.

scientific article

Classic Ehlers-Danlos syndrome: case report and brief review of literature

scientific article published on January 2013

Clinodactyly and syndactyly - diagnostic clues for Andersen-Tawil syndrome

scientific article published on 01 November 2014

Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients

scientific article published on 16 October 2012

Enhanced cytotoxicity of prenylated chalcone against tumour cells via disruption of the p53-MDM2 interaction.

scientific article published on 14 October 2015

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

scientific article published on 30 September 2013

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

article

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities

scientific article published on 4 September 2015

Investigation of Genetic Etiology in Neurodegenerative Dementias: Recommendations from the Centro Hospitalar São João Neurogenetics Group

scientific article published on 31 October 2016

Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis

scientific article published on 21 May 2013

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

scientific article

Modification of the postrotary nystagmus test for evaluating young children.

scientific article published on September 2014

Moyamoya vascular pattern in Alagille syndrome.

scientific article published on August 2012

Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy ⬇️

scientific article published on March 26, 2013

Porencephalic cyst in pycnodysostosis.

scientific article published on December 1989

Posterior urethral valves with polydactyly: case report of a six year old boy

scientific article published on 01 January 1989

Sydenham's chorea in a family with Huntington's disease: case report and review of the literature

scientific article

Syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis (HaNDL): a pediatric case report.

scientific article published on 17 October 2012

Valproate as a cause of hyperammonemia in heterozygotes with ornithine-transcarbamylase deficiency

scientific article published on 01 March 1995

p53 family interactions and yeast: together in anticancer therapy.

scientific article published on 15 February 2016

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