Found: 33
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The impact of Marfan syndrome on an Aboriginal Australian family: 'I don't like it as much as I don't like cancer'.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 3, p. 620, doi. 10.1002/jgc4.1529
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- Article
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
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- Journal of Bone & Mineral Research, 2023, v. 38, n. 5, p. 678, doi. 10.1002/jbmr.4795
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- Article
A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 1, p. 92, doi. 10.1002/jbmr.3875
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- Article
Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 7, p. 1260, doi. 10.1002/jbmr.3424
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- Article
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1234, doi. 10.1093/hmg/ddu534
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- Article
The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1664, doi. 10.3390/ijms25031664
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- Article
Genomic Risk Score for Melanoma in a Prospective Study of Older Individuals.
- Published in:
- 2021
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- Publication type:
- journal article
Queensland Consumers' Awareness and Understanding of Clinical Genetics Services.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.537743
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- Article
Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0275926
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- Article
Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?
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- 2021
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- Publication type:
- journal article
A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours.
- Published in:
- Dermatology (10188665), 2021, v. 237, n. 5, p. 806, doi. 10.1159/000513919
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- Article
A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes.
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- Dermatology (10188665), 2021, v. 237, n. 5, p. 816, doi. 10.1159/000513576
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- Publication type:
- Article
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
- Published in:
- Scientific Reports, 2016, p. 24083, doi. 10.1038/srep24083
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- Article
Community input in a genomic health implementation program: Perspectives of a community advisory group.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.892475
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- Article
Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.771892
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- Article
MITF E318K: A rare homozygous case with multiple primary melanoma.
- Published in:
- Pigment Cell & Melanoma Research, 2024, v. 37, n. 1, p. 68, doi. 10.1111/pcmr.13122
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- Article
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238529
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- Article
Factors influencing cancer genetic somatic mutation test ordering by cancer physician.
- Published in:
- 2020
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- Publication type:
- journal article
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
- Published in:
- BMC Musculoskeletal Disorders, 2014, v. 15, n. 1, p. 107, doi. 10.1186/1471-2474-15-107
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- Publication type:
- Article
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
- Published in:
- 2014
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- Publication type:
- journal article
Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort.
- Published in:
- Pediatric Diabetes, 2019, v. 20, n. 1, p. 57, doi. 10.1111/pedi.12766
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- Article
Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study.
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- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00461
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- Article
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia.
- Published in:
- Twin Research & Human Genetics, 2023, v. 26, n. 2, p. 184, doi. 10.1017/thg.2023.11
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- Article
Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism.
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- Journal of Dermatology, 2022, v. 49, n. 11, p. 1183, doi. 10.1111/1346-8138.16528
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- Article
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 695, doi. 10.1002/humu.22994
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- Publication type:
- Article
Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2393, doi. 10.1093/hmg/ddab172
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- Article
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3662, doi. 10.1093/hmg/ddaa258
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- Article
The emerging field of polygenic risk scores and perspective for use in clinical care.
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- Human Molecular Genetics, 2020, v. 29, n. R2, p. R165, doi. 10.1093/hmg/ddaa136
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- Article
Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 829, doi. 10.1002/ajmg.a.61474
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- Article
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1698, doi. 10.1002/ajmg.a.38215
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- Article
Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1116
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- Article
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 1, p. 25, doi. 10.1111/cen.12331
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- Article
Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.628946
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- Article