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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 533, doi. 10.1002/gcc.20661
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- Publication type:
- Article
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 198, doi. 10.1007/s00439-002-0765-8
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- Publication type:
- Article
The Impacts of Knowledge Management and Information Technology Advances on Public Health Decision-Making in 2010.
- Published in:
- Health Informatics Journal, 2004, v. 10, n. 2, p. 111, doi. 10.1177/1460458204042233
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- Publication type:
- Article
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
- Published in:
- 2019
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- Publication type:
- journal article
Maternal phenylketonuria: a continuing problem.
- Published in:
- Medical Journal of Australia, 1999, v. 170, n. 12, p. 592, doi. 10.5694/j.1326-5377.1999.tb127906.x
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- Publication type:
- Article
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2652, doi. 10.1093/hmg/ddt114
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- Publication type:
- Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
- Published in:
- 2018
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- Publication type:
- journal article
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5324, doi. 10.3390/ijms22105324
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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.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1403, doi. 10.3390/genes14071403
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- Publication type:
- Article
Medical Examination of School Entrants: Later School Problems and Absenteeism of Attenders and Non-attenders.
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- American Journal of Public Health, 1985, v. 75, n. 4, p. 395, doi. 10.2105/AJPH.75.4.395
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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
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Publication type:
- Article
Pathways to policy: Lessons learned in multisectoral collaboration for physical activity and built environment policy development from the Coalitions Linking Action and Science for Prevention (CLASP) initiative.
- Published in:
- Canadian Journal of Public Health, 2017, v. 108, n. 2, p. e192, doi. 10.17269/CJPH.108.5758
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- Publication type:
- Article
Incorporating consideration of health impacts into land use development approval processes: Development of a Health Background Study Framework.
- Published in:
- Canadian Journal of Public Health, 2015, v. 106, n. S1, p. eS33
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- Publication type:
- Article
Healthy Canada by Design: Translating science into action and prevention.
- Published in:
- Canadian Journal of Public Health, 2015, v. 106, n. S1, p. eS3, doi. 10.17269/cjph.106.4720
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- Publication type:
- Article
A population-level analysis of birth weight indices in Peel Region, Ontario: the impact of ethnic diversity.
- Published in:
- 2012
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- Publication type:
- journal article
A Population-level Analysis of Birth Weight Indices in Peel Region, Ontario: The Impact of Ethnic Diversity.
- Published in:
- Canadian Journal of Public Health, 2012, v. 103, n. 5, p. 368, doi. 10.1007/bf03404443
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- Publication type:
- Article
Building community and public health nursing capacity: a synthesis report of the National Community Health Nursing Study.
- Published in:
- 2009
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- Publication type:
- journal article
Fostering evidence-based decision-making in Canada: examining the need for a Canadian population and public health evidence centre and research network.
- Published in:
- 2005
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- Publication type:
- journal article
Favoriser la prise de décision factuelle au Canada: Examen de la nécessité de créer un Centre de données de recherche et un Réseau de recherche sur la santé publique et des populations au Canada.
- Published in:
- Canadian Journal of Public Health, 2005, v. 96, n. 3, p. I20
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- Publication type:
- Article
Examining the Need for a Canadian Population and Public Health Evidence Centre and Research Network.
- Published in:
- Canadian Journal of Public Health, 2005, v. 96, n. 3, p. I1
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- Publication type:
- Article
Developing the Public Health Workforce in Canada.
- Published in:
- Canadian Journal of Public Health, 2004, v. 95, n. 3, p. 186, doi. 10.1007/bf03403645
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- Publication type:
- Article
A randomized trial of two public health nurse follow-up programs after early obstetrical discharge: an examination of breastfeeding rates, maternal confidence and utilization and costs of health services.
- Published in:
- 2003
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- Publication type:
- journal article
Primary care reform: Is it time for population-based funding?
- Published in:
- 1997
- By:
- Publication type:
- Editorial
Agenesis of the corpus callosum: A clinical approach to diagnosis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 2, p. 184, doi. 10.1002/ajmg.c.31405
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- Publication type:
- Article
EXCISION REPAIR IN TETRAHYMENA: EVENTS FOLLOWING REFEEDING OF STARVED UV-IRRADIATED CELLS.
- Published in:
- Photochemistry & Photobiology, 1975, v. 21, n. 1, p. 5, doi. 10.1111/j.1751-1097.1975.tb06622.x
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- Publication type:
- Article
Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 5, p. 559, doi. 10.1002/ccr3.888
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- Publication type:
- Article
Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008803
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- Publication type:
- Article
The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.
- Published in:
- Reviews in the Neurosciences, 2018, v. 29, n. 3, p. 295, doi. 10.1515/revneuro-2017-0027
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- Publication type:
- Article
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.
- Published in:
- Neural Plasticity, 2017, p. 1, doi. 10.1155/2017/6509493
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- Publication type:
- Article
The periodic health examination.
- Published in:
- Canadian Medical Association Journal, 1981, v. 124, n. 6, p. 670
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- Publication type:
- Article
Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendations.
- Published in:
- Promotion de la Santé et Prévention des Maladies Chroniques au Canada, 2018, v. 38, n. 1, p. 6, doi. 10.24095/hpcdp.38.1.03
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- Publication type:
- Article
Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendations.
- Published in:
- Health Promotion & Chronic Disease Prevention in Canada, 2018, v. 38, n. 1, p. 6, doi. 10.24095/hpcdp.38.1.03
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- Publication type:
- Article
The behavioral phenotype of Mowat-Wilson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 358, doi. 10.1002/ajmg.a.34405
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- Publication type:
- Article
Introducing the National Collaborating Centres for Public Health.
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- Canadian Medical Association Journal (CMAJ), 2006, v. 175, n. 5, p. 493, doi. 10.1503/cmaj.060850
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- Publication type:
- Article
In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophy.
- Published in:
- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2002, v. 42, n. 1, p. 85, doi. 10.1111/j.0004-8666.2002.00085.x
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- Publication type:
- Article
ZFHX1B mutations in patients with Mowat-Wilson syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 313, doi. 10.1002/humu.20452
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- Publication type:
- Article
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 477, doi. 10.1111/jpc.15382
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- Publication type:
- Article
FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 4, p. 356, doi. 10.1111/j.1440-1754.2011.02236.x
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- Publication type:
- Article
Chromosome microarray in Australia: A guide for paediatricians.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 2, p. E59, doi. 10.1111/j.1440-1754.2011.02081.x
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- Publication type:
- Article
An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?
- Published in:
- Journal of Paediatrics & Child Health, 2011, v. 47, n. 10, p. 711, doi. 10.1111/j.1440-1754.2011.02038.x
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- Publication type:
- Article
Letter to the Editor.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Supporting collaborative use of the Diabetes Population Risk Tool (DPoRT) in health-related practice: a multiple case study research protocol.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 625, doi. 10.1111/dmcn.15117
- By:
- Publication type:
- Article
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
- Published in:
- Human Mutation, 2016, v. 37, n. 4, p. 371, doi. 10.1002/humu.22948
- By:
- Publication type:
- Article
Mutation Spectrum in RAB 3 GAP 1, RAB 3 GAP 2, and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 686, doi. 10.1002/humu.22296
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- Publication type:
- Article
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3432, doi. 10.1002/ajmg.a.62950
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- Publication type:
- Article
Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2152, doi. 10.1002/ajmg.a.61295
- By:
- Publication type:
- Article
Sleep disturbance in Mowat-Wilson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 654, doi. 10.1002/ajmg.a.37502
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- Publication type:
- Article