통합검색
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'skeletal dysplasia' 에 대한 통합검색결과 9건입니다.
한빛사9건
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Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome
- Nat. Commun. 05 December 2024;15;10510 | https://doi.org/10.1038/s41467-024-54837-3
- 2024.12
- 생명과학
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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
- Am. J. Hum. Genet. Available online 14 February 2019 | https://doi.org/10.1016/j.ajhg.2019.01.009
- 2019.02
- 의약학
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Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
- Am. J. Hum. Genet. Available online 12 February 2015 | doi:10.1016/j.ajhg.2015.01.002
- 2015.02
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Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
- Am. J. Hum. Genet. 22 January 2015 | DOI: http://dx.doi.org/10.1016/j.ajhg.2014.11.019
- 2015.01
- 의약학
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Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
- BMC Musculoskelet. Disord. 2014, 15:371 | doi:10.1186/1471-2474-15-371
- 2014.11
- 의약학
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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
- Am. J. Hum. Genet. Volume 90, Issue 2, 282-289, 19 January 2012 | doi:10.1016/j.ajhg.2011.11.023
- 2012.01
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Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type
- Am. J. Hum. Genet. Volume 89, Issue 6, 760-766, 9 December 2011 | doi:10.1016/j.ajhg.2011.10.015
- 2011.12
- 의약학
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Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome–like skeletal defects induced by Pdk1 or Cbp mutations in mice
- J. Clin. Invest. 2012;122(1):91–106. doi:10.1172/JCI59466.
- 2011.12
- 의약학
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- Nat. Genet. (2010) | doi:10.1038/ng.594 | published online 30 May 2010
- 2010.05
- 의약학
