Detalhe da pesquisa
1.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med
; 380(2): 142-151, 2019 01 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30586318
2.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 102(6): 1115-1125, 2018 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29805041
3.
Exome-Based Rare-Variant Analyses in CKD.
J Am Soc Nephrol
; 30(6): 1109-1122, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31085678
4.
Mitogenomic evidence of close relationships between New Zealand's extinct giant raptors and small-sized Australian sister-taxa.
Mol Phylogenet Evol
; 134: 122-128, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30753886
5.
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Am J Hum Genet
; 96(4): 623-30, 2015 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25817014
6.
Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New Zealand.
J Pediatr Gastroenterol Nutr
; 66(2): 218-221, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29036008
7.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 105(3): 669, 2019 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31491409
8.
Interspecific hybridization causes long-term phylogenetic discordance between nuclear and mitochondrial genomes in freshwater fishes.
Mol Ecol
; 26(12): 3116-3127, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28295830
9.
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Neurogenetics
; 14(2): 113-21, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23456229
10.
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.
Front Genet
; 10: 800, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31616463
11.
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Maori family.
BMC Med Genomics
; 11(1): 121, 2018 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-30563518