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List of works by Tanya Nelson

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

scientific article

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

scientific article published on 7 May 2016

Alpha1-antitrypsin deficiency: a clinical-genetic overview

scientific article published on 31 March 2011

CCMG statement on direct-to-consumer genetic testing*

scientific article published on 10 November 2011

CCMG statement on gene patents

article

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

scientific article

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

scientific article published on 3 December 2015

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

scientific article

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion

article

Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63).

scientific article published in August 2001

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

scientific article published on 7 May 2015

Uniparental disomy: can SNP array data be used for diagnosis?

scientific article

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity

article

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