Found: 40
Select item for more details and to access through your institution.
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Optimal management of complications associated with achondroplasia.
- Published in:
- Application of Clinical Genetics, 2014, v. 7, p. 117, doi. 10.2147/TACG.S51485
- By:
- Publication type:
- Article
Phenotyping CHST3 skeletal dysplasia from freezer-induced urine sediments.
- Published in:
- Australian Journal of Chemistry, 2023, v. 76, n. 6-8, p. 476, doi. 10.1071/CH23041
- 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
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00841-x
- By:
- Publication type:
- Article
The effect of height, weight and head circumference on gross motor development in achondroplasia.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 2, p. E122, doi. 10.1111/jpc.12078
- By:
- Publication type:
- Article
Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 5, p. 443, doi. 10.1111/j.1440-1754.2011.02255.x
- By:
- Publication type:
- Article
Optic disc swelling in acromicric and geleophysic dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1898, doi. 10.1002/ajmg.a.61268
- By:
- Publication type:
- Article
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1698, doi. 10.1002/ajmg.a.38215
- By:
- Publication type:
- Article
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 461, doi. 10.1002/ajmg.a.36922
- By:
- Publication type:
- Article
Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2007, v. 22, n. 2, p. 329, doi. 10.1359/JBMR.061013
- By:
- Publication type:
- Article
Ontoclick: a web browser extension to facilitate biomedical knowledge curation.
- Published in:
- Bioinformatics, 2022, v. 38, n. 1, p. 301, doi. 10.1093/bioinformatics/btab520
- By:
- 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
- By:
- Publication type:
- Article
Capturing domain knowledge from multiple sources: the rare bone disorders use case.
- Published in:
- Journal of Biomedical Semantics, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13326-015-0008-2
- By:
- Publication type:
- Article
Semantic interestingness measures for discovering association rules in the skeletal Dysplasia domain.
- Published in:
- Journal of Biomedical Semantics, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2041-1480-5-8
- By:
- Publication type:
- Article
Mining Skeletal Phenotype Descriptions from Scientific Literature.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055656
- By:
- Publication type:
- Article
Decision Support Methods for Finding Phenotype -- Disorder Associations in the Bone Dysplasia Domain.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050614
- By:
- Publication type:
- Article
The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.
- Published in:
- PLoS ONE, 2008, v. 3, n. 11, p. 1, doi. 10.1371/journal.pone.0003642
- By:
- Publication type:
- Article
Development in children with achondroplasia: a prospective clinical cohort study.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 532, doi. 10.1111/j.1469-8749.2012.04234.x
- By:
- Publication type:
- Article
Functional performance in young Australian children with achondroplasia.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 944, doi. 10.1111/j.1469-8749.2011.04050.x
- By:
- Publication type:
- Article
Bruck Syndrome: Beyond the Obvious.
- Published in:
- Fetal Diagnosis & Therapy, 2022, v. 49, n. 11/12, p. 479, doi. 10.1159/000527594
- By:
- Publication type:
- Article
Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav005
- By:
- Publication type:
- Article
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744
- By:
- Publication type:
- Article
Australian guidelines for the management of children with achondroplasia.
- Published in:
- Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290
- By:
- Publication type:
- Article
Phenotyping: Targeting genotype's rich cousin for diagnosis.
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 4, p. 381, doi. 10.1111/jpc.12705
- By:
- Publication type:
- Article
Short Stature and Metaphyeal Dysplasia Due to Cartilage-Hair Hypoplasia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 3, p. 209, doi. 10.1515/jpem.2008.21.3.209
- By:
- Publication type:
- Article
Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.
- Published in:
- BMC Bioinformatics, 2012, v. 13, n. 1, p. 265, doi. 10.1186/1471-2105-13-265
- By:
- Publication type:
- Article
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 68, doi. 10.1002/jmd2.12132
- By:
- Publication type:
- Article
Investigation of a family affected by early-onset osteoarthritis – proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA.
- Published in:
- BMC Musculoskeletal Disorders, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12891-023-06691-5
- By:
- Publication type:
- Article
Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia.
- Published in:
- Children, 2024, v. 11, n. 7, p. 789, doi. 10.3390/children11070789
- By:
- Publication type:
- Article
Decomposing Phenotype Descriptions for the Human Skeletal Phenome.
- Published in:
- Biomedical Informatics Insights, 2013, v. 6, p. 1, doi. 10.4137/BII.S10729
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 3, p. 1, doi. 10.1371/journal.pgen.1002027
- By:
- Publication type:
- Article
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations.
- Published in:
- PLoS Genetics, 2005, v. 1, n. 4, p. 444, doi. 10.1371/journal.pgen.0010047
- By:
- Publication type:
- Article
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 144, doi. 10.1002/humu.21611
- By:
- Publication type:
- Article
Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
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
- By:
- 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
- By:
- Publication type:
- journal article