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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
- Published in:
- Scientific Reports, 2015, p. 17154, doi. 10.1038/srep17154
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- Publication type:
- Article
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
- Published in:
- 2017
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- Publication type:
- Case Study
Fibromatosis Associated with Silicone Breast Implant: Ultrasonography and MR Imaging Findings.
- Published in:
- Breast Journal, 2014, v. 20, n. 6, p. 645, doi. 10.1111/tbj.12340
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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
Calcifying Aponeurotic Fibroma: Case Report with Radiographic and MR Features.
- Published in:
- Korean Journal of Radiology, 2014, v. 15, n. 1, p. 134, doi. 10.3348/kjr.2014.15.1.134
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- Publication type:
- Article
Desmoplastic Fibroma of Bone in a Toe: Radiographic and MRI Findings.
- Published in:
- Korean Journal of Radiology, 2013, v. 14, n. 6, p. 963, doi. 10.3348/kjr.2013.14.6.963
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- Publication type:
- Article
Spinal Meningeal Melanocytoma with Benign Histology Showing Leptomeningeal Spread: Case Report.
- Published in:
- Korean Journal of Radiology, 2013, v. 14, n. 3, p. 470, doi. 10.3348/kjr.2013.14.3.470
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- Publication type:
- Article
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 5, p. 398, doi. 10.1038/jhg.2011.28
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- Publication type:
- Article
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 11, p. 764, doi. 10.1038/jhg.2010.102
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- Publication type:
- Article
TRPV4-pathy, a novel channelopathy affecting diverse systems.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 7, p. 400, doi. 10.1038/jhg.2010.37
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- Publication type:
- Article
Effect of Zoledronic Acid on Acro-Osteolysis and Osteoporosis in a Patient with Hajdu-Cheney Syndrome.
- Published in:
- Yonsei Medical Journal, 2011, v. 52, n. 3, p. 543, doi. 10.3349/ymj.2011.52.3.543
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- Publication type:
- Article
Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
- Published in:
- Clinics in Orthopedic Surgery, 2017, v. 9, n. 1, p. 109, doi. 10.4055/cios.2017.9.1.109
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- Publication type:
- Article
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0802-2
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- Publication type:
- Article
Autosomal dominant brachyolmia: transient metaphyseal striations.
- Published in:
- 2017
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- Publication type:
- journal article
Subcutaneous intravascular papillary endothelial hyperplasia: ultrasound features and pathological correlation.
- Published in:
- 2016
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- Publication type:
- journal article
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
- Published in:
- Skeletal Radiology, 2014, v. 43, n. 3, p. 359, doi. 10.1007/s00256-013-1797-y
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- Publication type:
- Article
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.
- Published in:
- Skeletal Radiology, 2012, v. 41, n. 11, p. 1479, doi. 10.1007/s00256-012-1442-1
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- Publication type:
- Article
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
- Published in:
- 2009
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- Publication type:
- journal article
Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency.
- Published in:
- 2013
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- Publication type:
- Abstract
Reply.
- Published in:
- 2007
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- Publication type:
- Letter
Imaging features of gastrointestinal tract duplications in infants and children: from oesophagus to rectum.
- Published in:
- Pediatric Radiology, 2007, v. 37, n. 7, p. 691, doi. 10.1007/s00247-007-0476-3
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- Publication type:
- Article
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.
- Published in:
- Human Genetics, 2011, v. 129, n. 5, p. 497, doi. 10.1007/s00439-011-0947-3
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- Publication type:
- Article
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 3, p. 302
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- Publication type:
- Article
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
- Published in:
- 2016
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- Publication type:
- letter
Overcoming the barriers to diagnosis of Morquio A syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 192, doi. 10.1186/s13023-014-0192-7
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- Publication type:
- Article
Low-dose CT for patients with clinically suspected acute appendicitis: optimal strength of sinogram affirmed iterative reconstruction for image quality and diagnostic performance.
- Published in:
- 2015
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- Publication type:
- journal article
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 795, doi. 10.1002/ajmg.a.35268
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- Publication type:
- Article
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2609, doi. 10.1002/ajmg.a.34325
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- Publication type:
- Article
Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2669, doi. 10.1002/ajmg.a.34246
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- Publication type:
- Article
Axial spondylometaphyseal dysplasia: Additional reports.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2521, doi. 10.1002/ajmg.a.34192
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- Publication type:
- Article
Pulmonary manifestations in Proteus syndrome: Pulmonary varicosities and bullous lung disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 865, doi. 10.1002/ajmg.a.33926
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- Publication type:
- Article
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.
- Published in:
- 2014
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- Publication type:
- Case Study
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
- Published in:
- BMC Musculoskeletal Disorders, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2474-15-84
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- Publication type:
- Article
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
- Published in:
- 2014
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- Publication type:
- journal article
Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1004, doi. 10.1002/humu.22839
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- Publication type:
- Article
Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 191, doi. 10.1002/humu.22731
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- Publication type:
- Article
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 338, doi. 10.1002/ajmg.a.61414
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- Publication type:
- Article
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1102, doi. 10.1002/ajmg.a.38116
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- Publication type:
- Article
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 588, doi. 10.1002/ajmg.a.38064
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- Publication type:
- Article
Cover Image, Volume 173A, Number 3, March 2017.
- Published in:
- 2017
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- Publication type:
- Other
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 426, doi. 10.1002/ajmg.a.37463
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- Publication type:
- Article
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1501, doi. 10.1002/ajmg.a.37029
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- Publication type:
- Article
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1033, doi. 10.1002/ajmg.a.36884
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- Publication type:
- Article
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2529, doi. 10.1002/ajmg.a.36669
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- Publication type:
- Article
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 ( NPR2) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 156, doi. 10.1002/ajmg.a.36218
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- Publication type:
- Article
'Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome' Am J Med Genet. 161:518-526, 2013.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2685, doi. 10.1002/ajmg.a.36113
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- Publication type:
- Article
Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1972, doi. 10.1002/ajmg.a.36024
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- Publication type:
- Article
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 518, doi. 10.1002/ajmg.a.35772
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- Publication type:
- Article