about
Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanismObituary: A/Prof John MacMillan (1959-2014).Further delineation of the KAT6B molecular and phenotypic spectrumAgenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Characterizing the oculoauriculofrontonasal syndrome.Mutation update for the PORCN gene.Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.The oculoauriculovertebral spectrum: Refining the estimate of birth prevalenceCharacteristics of Queensland physicians and the influence of rural exposure on practice location.Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndromeAicardi syndrome associated with hepatoblastoma and pulmonary sequestration.Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic FibrosisA second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)Molecular Support for Heterogonesis Resulting in Sesquizygotic TwinningNeonatal severe hyperparathyroidism: an important clue to the aetiologyHuman Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia
P50
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P50
description
investigador
@es
researcher
@en
name
Michael T Gabbett
@en
Michael T Gabbett
@nl
type
label
Michael T Gabbett
@en
Michael T Gabbett
@nl
prefLabel
Michael T Gabbett
@en
Michael T Gabbett
@nl
P31
P496
0000-0002-5828-315X