Lista de obras - Andreas Tzschach - Dominio Público Uruguay

11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features ⬇️

artículo científico publicado el 1 de octubre de 2010

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

artículo científico publicado en 2007

Christianson syndrome in a patient with an interstitial Xq26.3 deletion ⬇️

artículo científico publicado el 19 de septiembre de 2011

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

artículo científico publicado en 2010

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

artículo científico publicado en 2008

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

artículo científico publicado en 2012

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

scientific journal article

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

artículo científico publicado en 2011

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

scientific journal article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

artículo científico publicado en 2020

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

artículo científico publicado en 2006

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.

artículo científico publicado en 2017

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

artículo científico publicado en 2018

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion