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A population-based study of abdominal wall defects in South Australia and Western Australia.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells.
- Published in:
- Molecular Human Reproduction, 1999, v. 5, n. 11, p. 1089, doi. 10.1093/molehr/5.11.1089
- By:
- Publication type:
- Article
X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 1, p. 55, doi. 10.1034/j.1399-0004.1999.550110.x
- By:
- Publication type:
- Article
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 4, p. 199, doi. 10.1111/j.1399-0004.1997.tb02547.x
- By:
- Publication type:
- Article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis.
- Published in:
- Twin Research & Human Genetics, 2014, v. 17, n. 6, p. 578, doi. 10.1017/thg.2014.65
- By:
- Publication type:
- Article
Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 24, doi. 10.1002/ajmg.b.32114
- By:
- Publication type:
- Article
Genetic and clinical contributions to cerebral palsy: A multi-variable analysis.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 7, p. 575, doi. 10.1111/jpc.12279
- By:
- Publication type:
- Article
The Australian cerebral palsy research study - Protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy.
- Published in:
- Journal of Paediatrics & Child Health, 2011, v. 47, n. 3, p. 99, doi. 10.1111/j.1440-1754.2010.01896.x
- By:
- Publication type:
- Article
Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians’ knowledge, attitudes and practice.
- Published in:
- Journal of Paediatrics & Child Health, 2006, v. 42, n. 11, p. 698, doi. 10.1111/j.1440-1754.2006.00954.x
- By:
- Publication type:
- Article
Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4‐related arteriopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2180, doi. 10.1002/ajmg.a.62218
- By:
- Publication type:
- Article
CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1780, doi. 10.1002/ajmg.a.61601
- By:
- Publication type:
- Article
Clinical and molecular spectrum of CHOPS syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1126, doi. 10.1002/ajmg.a.61174
- By:
- Publication type:
- Article
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2960, doi. 10.1002/ajmg.a.37856
- By:
- Publication type:
- Article
Phenotypes of AKT3 deletion: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 174, doi. 10.1002/ajmg.a.36710
- By:
- Publication type:
- Article
Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 1, p. 82, doi. 10.1359/jbmr.090707
- By:
- Publication type:
- Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
- By:
- Publication type:
- Article
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0414-7
- By:
- Publication type:
- Article
RPGR mutations might cause reduced orientation of respiratory cilia.
- Published in:
- Pediatric Pulmonology, 2013, v. 48, n. 4, p. 352, doi. 10.1002/ppul.22632
- By:
- Publication type:
- Article
Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 7, p. 553, doi. 10.1002/pd.108
- By:
- Publication type:
- Article
The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2000, v. 107, n. 12, p. 1453, doi. 10.1111/j.1471-0528.2000.tb11668.x
- By:
- Publication type:
- Article
The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella-related terminations of pregnancy in South Australia.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1998, v. 105, n. 9, p. 998, doi. 10.1111/j.1471-0528.1998.tb10264.x
- By:
- Publication type:
- Article
The sensitivity of ultrasound and serum alpha-fetoprotein in population-based antenatal screening for neural tube defects, South Australia 1986-1991.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1995, v. 102, n. 5, p. 370, doi. 10.1111/j.1471-0528.1995.tb11287.x
- By:
- Publication type:
- Article
<i>C9ORF72</i> Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056899
- By:
- Publication type:
- Article
Motor function in 5-year-old children with cerebral palsy in the South Australian population.
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 7, p. 551, doi. 10.1111/j.1469-8749.2008.03182.x
- By:
- Publication type:
- Article
Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 411, doi. 10.1007/s00439-008-0564-y
- By:
- Publication type:
- Article
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00277-7
- By:
- Publication type:
- Article
Rare copy number variation in cerebral palsy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 40, doi. 10.1038/ejhg.2013.93
- By:
- Publication type:
- Article
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201260
- By:
- Publication type:
- Article
The clinical geneticist and the "new genetics".
- Published in:
- Medical Journal of Australia, 2003, v. 178, n. 9, p. 458, doi. 10.5694/j.1326-5377.2003.tb05291.x
- By:
- Publication type:
- Article
"Folate before pregnancy": the impact on women and health professionals of a population‐based health promotion campaign in South Australia.
- Published in:
- Medical Journal of Australia, 2001, v. 174, n. 12, p. 631, doi. 10.5694/j.1326-5377.2001.tb143471.x
- By:
- Publication type:
- Article
Universal periconceptional folate supplementation: chasing a dream?
- Published in:
- Medical Journal of Australia, 2000, v. 173, n. 4, p. 223, doi. 10.5694/j.1326-5377.2000.tb125618.x
- By:
- Publication type:
- Article
Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansion.
- Published in:
- Medical Journal of Australia, 1995, v. 162, n. 7, p. 385, doi. 10.5694/j.1326-5377.1995.tb139951.x
- By:
- Publication type:
- Article
Screening for carriers of genetic disease: points to consider.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Amniotic band syndrome: a population-based study in two Australian states.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 1, p. 159, doi. 10.1007/s10897-016-9994-1
- By:
- Publication type:
- Article
Epilepsy and mental retardation limited to females: an under-recognized disorder.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. 918, doi. 10.1093/brain/awm338
- By:
- Publication type:
- Article
What constitutes cerebral palsy?
- Published in:
- 1998
- By:
- Publication type:
- journal article
Reproductive technologies: the alchemy of life.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
Folate awareness and the prevalence of neural tube defects in South Australia, 1966-2007.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 6, p. 1032, doi. 10.1093/hmg/ddac262
- By:
- Publication type:
- Article
Genetic susceptibility to viral exposure may increase the risk of cerebral palsy.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2009, v. 49, n. 3, p. 247, doi. 10.1111/j.1479-828X.2009.00999.x
- By:
- Publication type:
- Article
Combining first and second trimester markers for Down syndrome screening: Think twice.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2008, v. 48, n. 5, p. 492, doi. 10.1111/j.1479-828X.2008.00911.x
- By:
- Publication type:
- Article
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68848-9
- By:
- Publication type:
- Article
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5250, doi. 10.1093/hmg/ddv245
- By:
- Publication type:
- Article
Assessment of myocardial oxygenation, strain, and diastology in MYBPC3 -related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2019, v. 20, n. 8, p. 932, doi. 10.1093/ehjci/jey220
- By:
- Publication type:
- Article
Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1492, doi. 10.1002/ajmg.a.34003
- By:
- Publication type:
- Article
FRA2A Is a CGG Repeat Expansion Associated with Silencing of <i>AFF3</i>.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004242
- By:
- Publication type:
- Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
- By:
- Publication type:
- Article