Detalhe da pesquisa
1.
Australian guidelines for the management of children with achondroplasia.
J Paediatr Child Health;
59(2): 229-241, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36628540
2.
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.
BMC Musculoskelet Disord;
24(1): 570, 2023 Jul 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37443051
3.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet;
104(5): 957-967, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31006512
4.
Ontoclick: a web browser extension to facilitate biomedical knowledge curation.
Bioinformatics;
38(1): 301-302, 2021 12 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34270699
5.
Bruck Syndrome: Beyond the Obvious.
Fetal Diagn Ther;
49(11-12): 479-485, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36476632
6.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Mol Genet Metab;
132(3): 198-203, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33549410
7.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
Am J Hum Genet;
97(1): 111-24, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26119816
8.
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Hum Mol Genet;
24(5): 1234-42, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25343988
9.
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
Am J Med Genet A;
173(6): 1698-1704, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28422394
10.
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
J Med Genet;
53(7): 457-64, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27068007
11.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol;
1031: 55-94, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29214566
12.
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
Am J Hum Genet;
93(3): 515-23, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23910462
13.
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet;
93(5): 932-44, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24183451
14.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Am J Hum Genet;
93(5): 915-25, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24140113
15.
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Am J Hum Genet;
90(3): 494-501, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22387013
16.
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.
Am J Med Genet A;
167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25604898
17.
Phenotyping: targeting genotype's rich cousin for diagnosis.
J Paediatr Child Health;
51(4): 381-6, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25109851
18.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat;
35(4): 424-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24488861
19.
Optic disc swelling in acromicric and geleophysic dysplasia.
Am J Med Genet A;
179(9): 1898-1901, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31228225
20.
Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain.
J Biomed Inform;
48: 73-83, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24333481