Detalhe da pesquisa
1.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 287-298, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661771
2.
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Neurogenetics
; 22(4): 263-269, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218362
3.
Highly efficient and more general cis- and trans-splicing inteins through sequential directed evolution.
J Biol Chem
; 286(39): 34440-7, 2011 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21832069
4.
Reading between the lines: a comparison of responders and non-responders to a family history questionnaire and implications for cancer genetic counselling.
J Genet Couns
; 21(2): 273-91, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21845493
5.
IMPACT webinars: Improving Patient Access to genetic Counselling and Testing using webinars-the Alberta experience with hypertrophic cardiomyopathy.
J Community Genet
; 13(1): 81-89, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766249
6.
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.
Nat Commun
; 13(1): 6595, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329026
7.
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Circ Cardiovasc Genet
; 6(4): 327-36, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23863954