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Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
- Published in:
- Journal of Genetic Counseling, 2024, v. 33, n. 3, p. 566, doi. 10.1002/jgc4.1757
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- Publication type:
- Article
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
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- Genes, 2023, v. 14, n. 7, p. 1403, doi. 10.3390/genes14071403
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- Publication type:
- Article
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.83606
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- Publication type:
- Article
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss.
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1658, doi. 10.1002/pd.6253
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- Publication type:
- Article
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1430, doi. 10.1002/humu.24431
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- Article
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 902, doi. 10.1002/jimd.12505
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- Article
Repeat Expansion Disorders: Bridging the Gap.
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- Clinical Chemistry, 2022, v. 68, n. 6, p. 748, doi. 10.1093/clinchem/hvac047
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- Article
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 1, p. 8, doi. 10.1111/jpc.15703
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- Article
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1425, doi. 10.1002/humu.24050
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- Publication type:
- Article
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
- Published in:
- 2020
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- Publication type:
- journal article
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 658, doi. 10.1002/ajmg.c.31753
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- Article
Front Cover, Volume 40, Issue 10.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. i, doi. 10.1002/humu.23923
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- Publication type:
- Article
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1813, doi. 10.1002/humu.23793
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- Publication type:
- Article
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1585, doi. 10.1002/ajmg.a.61200
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- Publication type:
- Article
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 240, doi. 10.1007/s10897-018-0298-5
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- Publication type:
- Article
Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.
- Published in:
- Australian Journal of General Practice, 2019, v. 48, n. 3, p. 106
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- Article
Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2018.00057
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- Article
An explosion, a tsunami, a runaway train: Half a century of genetics.
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- Journal of Paediatrics & Child Health, 2015, v. 51, n. 1, p. 3, doi. 10.1111/jpc.12799
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- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
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- Publication type:
- Article
Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 6, p. 598, doi. 10.1002/pd.4363
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- Publication type:
- Article
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 22, p. 4460, doi. 10.1093/hmg/ddt295
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- Publication type:
- Article
Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 9, p. 831, doi. 10.1002/pd.4131
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- Publication type:
- Article
Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1117, doi. 10.1002/ajmg.a.35791
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- Publication type:
- Article
Congenital heart disease: current knowledge about causes and inheritance.
- Published in:
- Medical Journal of Australia, 2012, v. 197, n. 3, p. 155, doi. 10.5694/mja12.10811
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- Publication type:
- Article
Congenital heart disease: current knowledge about causes and inheritance.
- Published in:
- Medical Journal of Australia, 2012, v. 197, n. 3, p. 155, doi. 10.5694/mja12.10811
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- Publication type:
- Article
Dominant missense mutations in ABCC9 cause Cantú syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
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- Publication type:
- Article
'Nasal' speech-hyper or hypo?
- Published in:
- 2012
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- Publication type:
- Letter
Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations.
- Published in:
- Congenital Heart Disease, 2012, v. 7, n. 2, p. 151, doi. 10.1111/j.1747-0803.2011.00573.x
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- Publication type:
- Article
Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2416, doi. 10.1002/ajmg.a.34187
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- Publication type:
- Article
Pierpont syndrome: A collaborative study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2203, doi. 10.1002/ajmg.a.34147
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- Publication type:
- Article
Investigation of Association between PFO Complicated by Cryptogenic Stroke and a Common Variant of the Cardiac Transcription Factor GATA4.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020711
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- Article
Salicylate intoxication from teething gel in infancy.
- Published in:
- 2011
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- Publication type:
- journal article
Salicylate intoxication from teething gel in infancy.
- Published in:
- Medical Journal of Australia, 2011, v. 194, n. 3, p. 146, doi. 10.5694/j.1326-5377.2011.tb04201.x
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- Publication type:
- Article
α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 20, p. 4007, doi. 10.1093/hmg/ddq315
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- Publication type:
- Article
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
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- Article
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.
- Published in:
- 2010
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- Publication type:
- journal article
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 620, doi. 10.1038/ng1780
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- Publication type:
- Article
Genetic risk estimation by health care professionals.
- Published in:
- Medical Journal of Australia, 2005, v. 182, n. 11, p. 596, doi. 10.5694/j.1326-5377.2005.tb06828.x
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- Publication type:
- Article
The expanding phenotype of cystic fibrosis.
- Published in:
- 2004
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- Publication type:
- case study
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
- Published in:
- Journal of Clinical Investigation, 2004, v. 114, n. 6, p. 837, doi. 10.1172/JCI200420683
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- Publication type:
- Article
Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II (Communicated by Elizabeth Neufeld).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 47, doi. 10.1002/humu.10286
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- Publication type:
- Article