Works matching DE "DIASTROPHIC dwarfism"
Results: 25
Protein localization of SLC26A2 (DTDST) in rat kidneys.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A1333, doi. 10.1096/fasebj.21.6.a1333-a
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- Publication type:
- Article
Diastrophic Dysplasia -- Variant.
- Published in:
- 2014
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- Publication type:
- Case Study
MR demonstration of septal involvement in arrhythmogenic right ventricular dysplasia.
- Published in:
- 2005
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- Publication type:
- journal article
Assignment of solute carrier family 26 (sulfate transporter), member 2 (SLC26a2) to river buffalo (Bubalus bubalis , 2n = 50) chromosome 9q26 (BBU9q26) by fluorescence in situ hybridization and R-banding.
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- Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 202A, doi. 10.1159/000076318
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- Article
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.
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- Journal of Human Genetics, 2008, v. 53, n. 8, p. 764, doi. 10.1007/s10038-008-0305-z
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- Article
Manubrium sterni in patients with diastrophic dysplasia – radiological analysis of 50 patients.
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- Pediatric Radiology, 2001, v. 31, n. 8, p. 555, doi. 10.1007/s002470100496
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- Article
Double-layered manubrium sterni in young children with diastrophic dysplasia.
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- Pediatric Radiology, 2000, v. 30, n. 6, p. 404, doi. 10.1007/s002470050772
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- Article
Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?
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- European Spine Journal, 2002, v. 11, n. 4, p. 327, doi. 10.1007/s00586-002-0413-y
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- Article
Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).
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- Biochemical Journal, 2016, v. 473, n. 5, p. 615, doi. 10.1042/BJ20151025
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- Article
Prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy: Two- and three-dimensional ultrasonographic findings.
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- Turkish Journal of Obstetrics & Gynecology, 2021, v. 18, n. 3, p. 258, doi. 10.4274/tjod.galenos.2021.35033
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- Article
Diastrophic dysplasia: prenatal three-dimensional ultrasound findings.
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- Ultrasound in Obstetrics & Gynecology, 2004, v. 23, n. 3, p. 312, doi. 10.1002/uog.988
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- Article
Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia.
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- Orthopaedic Surgery, 2014, v. 6, n. 4, p. 274, doi. 10.1111/os.12146
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- Article
Cervical spine surgery in patients with diastrophic dysplasia: Case report with long-term follow-up.
- Published in:
- 2015
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- Publication type:
- Case Study
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia ( rMED).
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- Clinical Genetics, 2015, v. 87, n. 3, p. 273, doi. 10.1111/cge.12371
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- Publication type:
- Article
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.
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- Clinical Genetics, 2014, v. 85, n. 6, p. 532, doi. 10.1111/cge.12353
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- Article
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 550, doi. 10.1111/j.1399-0004.2010.01595.x
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- Article
A family of mammalian anion transporters and their involvement in human genetic diseases.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1883, doi. 10.1093/hmg/8.10.1883
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- Article
A mild variant of Desbuquois dysplasia.
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- 1999
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- Publication type:
- journal article
DIASTROPHIC DWARFISM.
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- Clinical Pediatrics, 1965, v. 4, n. 2, p. 95, doi. 10.1177/000992286500400207
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- Article
Health-related quality of life in patients with diastrophic dysplasia: original article.
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- Scandinavian Journal of Public Health, 1999, v. 27, n. 1, p. 38, doi. 10.1177/14034948990270011401
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- Publication type:
- Article
Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia.
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- Clinical Genetics, 1999, v. 56, n. 1, p. 71, doi. 10.1034/j.1399-0004.1999.560110.x
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- Article
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 664
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- Article
Effect of 17β-Estradiol on Diastrophic Dysplasia Sulfate Transporter Activity in Otosclerotic Bone Cell Cultures and SaOS-2 cells.
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- Acta Oto-Laryngologica, 2004, v. 124, n. 8, p. 890, doi. 10.1080/00016480310017081
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- Article
Noticeboard.
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- Community Practitioner, 2008, v. 81, n. 10, p. 48
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- Article
A Unique Presentation of Immuno-Osseous Dysplasia.
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- Pediatric Dermatology, 2006, v. 23, n. 4, p. 373, doi. 10.1111/j.1525-1470.2006.00260.x
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- Publication type:
- Article