Found: 25
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The diagnosis of autism in a female: could it be Rett syndrome?
- Published in:
- 2008
- By:
- Publication type:
- journal article
MECP2 genomic structure and function: insights from ENCODE.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 19, p. 6035, doi. 10.1093/nar/gkn591
- By:
- Publication type:
- Article
Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 3, p. 458, doi. 10.1002/ajmg.b.32427
- By:
- Publication type:
- Article
Analysis of published PKD1 gene sequence variants.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Development and Validation of a Family History Screening Questionnaire in Australian Primary Care.
- Published in:
- Annals of Family Medicine, 2014, v. 12, n. 3, p. 241, doi. 10.1370/afm.1617
- By:
- Publication type:
- Article
Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD).
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 959, doi. 10.1002/(SICI)1097-0223(199910)19:10<959::AID-PD676>3.0.CO;2-B
- By:
- Publication type:
- Article
Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?
- Published in:
- 2013
- By:
- Publication type:
- Report
p.R270X MECP2 mutation and mortality in Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1235, doi. 10.1038/sj.ejhg.5201479
- By:
- Publication type:
- Article
A retrospective audit of family history records in short-stay medical admissions.
- Published in:
- Medical Journal of Australia, 2010, v. 192, n. 12, p. 682, doi. 10.5694/j.1326-5377.2010.tb03701.x
- By:
- Publication type:
- Article
Family history: the neglected risk factor in disease prevention.
- Published in:
- 2010
- By:
- Publication type:
- Editorial
Familial hypercholesterolaemia: a look back, a look ahead.
- Published in:
- Medical Journal of Australia, 2005, v. 183, n. 4, p. 222, doi. 10.5694/j.1326-5377.2005.tb07014.x
- By:
- Publication type:
- Article
Familial hypercholesterolaemia: a look back, a look ahead.
- Published in:
- Medical Journal of Australia, 2005, v. 182, n. 11, p. 552, doi. 10.5694/j.1326-5377.2005.tb06810.x
- By:
- Publication type:
- Article
A review of structural brain abnormalities in Pallister‐Killian syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 92, doi. 10.1002/mgg3.351
- By:
- Publication type:
- Article
PKDB: Polycystic Kidney Disease Mutation Database-a gene variant database for autosomal dominant polycystic kidney disease.
- Published in:
- 2007
- By:
- Publication type:
- Other
Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0176-2
- By:
- Publication type:
- Article
Maternal family history of diabetes is associated with a reduced risk of cardiovascular disease in women with type 2 diabetes: the Fremantle Diabetes Study.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Maternal Family History of Diabetes Is Associated With a Reduced Risk of Cardiovascular Disease in Women With Type 2 Diabetes.
- Published in:
- Diabetes Care, 2010, v. 33, n. 7, p. 1477, doi. 10.2337/dc10-0147
- By:
- Publication type:
- Article
Perceptions of genetic risk in individuals with a one in two chance of developing autosomal dominant polycystic kidney disease.
- Published in:
- Medical Journal of Australia, 1991, v. 154, n. 10, p. 689, doi. 10.5694/j.1326-5377.1991.tb121262.x
- By:
- Publication type:
- Article
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 395, doi. 10.1002/humu.20042
- By:
- Publication type:
- Article
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (Communicated by Haig H. Kazazian).
- Published in:
- Human Mutation, 2004, v. 23, n. 3, p. 234, doi. 10.1002/humu.20004
- By:
- Publication type:
- Article
Large deletions in the polycystic kidney disease 1 (PKD1) gene (Communicated by Martin Bobrow) Online Citation: Human Mutation, Mutation in Brief #679 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/679.pdf).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9208
- By:
- Publication type:
- Article
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12.
- Published in:
- Kidney International, 2001, v. 60, n. 4, p. 1233, doi. 10.1046/j.1523-1755.2001.00932.x
- By:
- Publication type:
- Article
Location of mutations within the PKD2 gene influences clinical outcome.
- Published in:
- Kidney International, 2000, v. 57, n. 4, p. 1444, doi. 10.1046/j.1523-1755.2000.00989.x
- By:
- Publication type:
- Article
Familial phenotype differences in PKD1<sup>1</sup>.
- Published in:
- Kidney International, 1999, v. 56, n. 1, p. 34, doi. 10.1046/j.1523-1755.1999.00541.x
- By:
- Publication type:
- Article
Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in <em>PKD1</em> adult polycystic kidney disease.
- Published in:
- Kidney International, 1997, v. 52, n. 3, p. 607, doi. 10.1038/ki.1997.373
- By:
- Publication type:
- Article