about
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7ASynpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractCCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signalingAudiological abnormalities in the Klippel-Feil syndromeMalignant peripheral nerve sheath tumours in neurofibromatosis 1A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotypeMutations in CDMP1 cause autosomal dominant brachydactyly type CSALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotypeMutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndromePositional cloning of a gene involved in hereditary multiple exostosesImproving identification of lynch syndrome patients: a comparison of research data with clinical records.Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Mutations in PAX1 may be associated with Klippel-Feil syndrome.CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityFurther clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.Prenatal diagnosis of mosaic trisomy 20 in New Zealand.Further delineation of the KAT6B molecular and phenotypic spectrumA protocol for the identification and validation of novel genetic causes of kidney diseaseAntisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study.Establishment of an Australian National Genetic Heart Disease Registry.A Prospective Study of Sudden Cardiac Death among Children and Young Adults.WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).A severe case of oculo-ectodermal syndrome?A rare case of a de novo dup(19q) associated with a mild phenotype.Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.Interstitial deletion of 3p22.2-p24.2: the first reported case.Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood.Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.Prenatal diagnosis of partial tetrasomy 14: a case study.Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life.Health status of cardiac genetic disease patients and their at-risk relatives.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Julie McGaughran
@ast
Julie McGaughran
@en
Julie McGaughran
@es
Julie McGaughran
@nl
Julie McGaughran
@sl
type
label
Julie McGaughran
@ast
Julie McGaughran
@en
Julie McGaughran
@es
Julie McGaughran
@nl
Julie McGaughran
@sl
prefLabel
Julie McGaughran
@ast
Julie McGaughran
@en
Julie McGaughran
@es
Julie McGaughran
@nl
Julie McGaughran
@sl
P106
P21
P31
P496
0000-0002-0926-7858