Detalhe da pesquisa
1.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat
; 39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266598
2.
Curation, integration and visualization of bacterial virulence factors in PATRIC.
Bioinformatics
; 31(2): 252-8, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25273106
3.
PATRIC, the bacterial bioinformatics database and analysis resource.
Nucleic Acids Res
; 42(Database issue): D581-91, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24225323
4.
The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults.
J Genet Couns
; 24(6): 931-44, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25894096
5.
Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
Am J Med Genet A
; 164A(4): 1003-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458550
6.
A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.
Sci Rep
; 11(1): 9560, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33953269
7.
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
J Clin Med
; 8(11)2019 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31752325
8.
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
Eur J Hum Genet
; 25(1): 79-84, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759031
9.
Evolution of drug resistance in multiple distinct lineages of H5N1 avian influenza.
Infect Genet Evol
; 9(2): 169-78, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19022400
10.
Neonatal severe hyperparathyroidism: an important clue to the aetiology.
J Paediatr Child Health
; 42(12): 813-6, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17096719
11.
The negative impact of Alagille syndrome on survival of infants with pulmonary atresia.
J Thorac Cardiovasc Surg
; 133(4): 1094-6, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17382662