A/Prof. Robert Gardner
Honorary
Paediatrics Royal Children's Hospital
23 Scholarly works
0 Projects
HIGHLIGHTS
2011
Journal article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
DOI: 10.1186/1750-1172-6-372010
Journal article
Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome
DOI: 10.1159/0003164042009
Journal article
A new dominantly inherited pure cerebellar ataxia, SCA 30
DOI: 10.1136/jnnp.2008.1594592007
Journal article
Deletions that reveal recessive genes
DOI: 10.1038/sj.ejhg.52019192007
Journal article
MURCS and thenar hypoplasia
DOI: 10.1097/MCD.0b013e32825ea6772007
Journal article
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
DOI: 10.1371/journal.pgen.00301082005
Journal article
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
DOI: 10.1136/jmg.2004.027888
RECENT SCHOLARLY WORKS
2005
Journal article
Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent
DOI: 10.1002/ajmg.a.303552005
Journal article
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
DOI: 10.1186/1471-2350-6-182005
Journal article
Severe fetal brain dysgenesis with focal calcification
DOI: 10.1002/pd.1152