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Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 373, doi. 10.1038/ejhg.2012.177
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- Publication type:
- Article
A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1033, doi. 10.3390/genes12071033
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- Publication type:
- Article
Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 943, doi. 10.3390/genes12060943
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- Publication type:
- Article
Impact of congenital talipes equinovarus etiology on treatment outcomes.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 7, p. 498, doi. 10.1111/j.1469-8749.2008.03016.x
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- Publication type:
- Article
Congenital Vertical Talus: Etiology and Management.
- Published in:
- 2015
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- Publication type:
- journal article
A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 1, p. 202, doi. 10.1093/hmg/ddv463
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- Publication type:
- Article
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5271, doi. 10.1093/hmg/ddu224
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- Publication type:
- Article
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 24, p. 4967, doi. 10.1093/hmg/ddt344
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- Publication type:
- Article
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3943, doi. 10.1093/hmg/ddr313
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- Publication type:
- Article
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 7, p. 1456, doi. 10.1093/hmg/ddq571
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- Publication type:
- Article
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1110, doi. 10.1093/hmg/ddp008
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- Publication type:
- Article
HOXD10 M319K mutation in a family with isolated congenital vertical talus.
- Published in:
- Journal of Orthopaedic Research, 2006, v. 24, n. 3, p. 448, doi. 10.1002/jor.20052
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- Publication type:
- Article
Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
- Published in:
- Journal of Orthopaedic Research, 2005, v. 23, n. 6, p. 1490, doi. 10.1016/j.orthres.2005.04.011.1100230636
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- Publication type:
- Article
Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36.
- Published in:
- Journal of Orthopaedic Research, 2000, v. 18, n. 3, p. 340, doi. 10.1002/jor.1100180303
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- Publication type:
- Article
The paediatric global musculoskeletal task force - 'towards better MSK health for all'.
- Published in:
- 2020
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- Publication type:
- Letter
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2170, doi. 10.1002/ajmg.a.34167
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- Publication type:
- Article
Genetic association and characterization of FSTL5 in isolated clubfoot.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3717, doi. 10.1093/hmg/ddaa236
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- Publication type:
- Article
MYH3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012356
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- Publication type:
- Article