Found: 19
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Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
- Published in:
- Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 287, doi. 10.1093/jbmr/zjad020
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- Publication type:
- Article
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
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- Publication type:
- Article
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 2, p. 283, doi. 10.1002/jbmr.4177
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- Publication type:
- Article
Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
- Published in:
- Journal of Bone & Mineral Research, 2020, v. 35, n. 8, p. 1470, doi. 10.1002/jbmr.4011
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- Article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
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- Article
Identification of mutations in CUL7 in 3-M syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1119, doi. 10.1038/ng1628
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- Publication type:
- Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05191-8
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- Publication type:
- Article
Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 76, n. 3, p. 178, doi. 10.1159/000329359
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- Publication type:
- Article
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
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- Publication type:
- Article
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 938, doi. 10.1002/ajmg.a.33871
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- Publication type:
- Article
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1731, doi. 10.1002/humu.23321
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- Publication type:
- Article
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome.
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- Human Mutation, 2015, v. 36, n. 2, p. 187, doi. 10.1002/humu.22729
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- Publication type:
- Article
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
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- Human Mutation, 2012, v. 33, n. 8, p. 1261, doi. 10.1002/humu.22104
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- Publication type:
- Article
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091
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- Publication type:
- Article
Genetic homogeneity of the Camurati–Engelmann disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 150, doi. 10.1034/j.1399-0004.2000.580211.x
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- Publication type:
- Article
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 639, doi. 10.1002/ajmg.a.61050
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- Publication type:
- Article
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 9, p. 1017, doi. 10.1093/hmg/11.9.1017
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- Publication type:
- Article
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 775, doi. 10.1093/hmg/8.5.775
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- Publication type:
- Article