Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.

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Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.

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http://www.wikidata.org/entity/Q40369368

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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name

Cartilage-hair hypoplasia with ...... tients with a unique genotype.

@en

type

Item

label

Cartilage-hair hypoplasia with ...... tients with a unique genotype.

@en

prefLabel

Cartilage-hair hypoplasia with ...... tients with a unique genotype.

@en

P1476

Cartilage-hair hypoplasia with ...... tients with a unique genotype.

@en

P2093

H Valta

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M Taskinen

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O Mäkitie

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P Klemetti

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S Kostjukovits

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S Toiviainen-Salo

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P2860

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

Variation of growth in height and weight of children. II. After infancy.

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.

P304

204-207

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P31

scholarly article

P356

10.1111/CGE.12969

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2017-01-17T00:00:00Z

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P698

28094436

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P921

cartilage