Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

@yue

2013年論文

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2013年論文

@zh-hk

2013年論文

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2013年論文

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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

@en

Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

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Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

@en

Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

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P1476

Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

@en

P2093

Curtis K Deutsch

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Lewis B Holmes

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Tania Hreczko

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P2860

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

The Johanson-Blizzard syndrome.

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5

Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies.

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.

The Johanson-Blizzard syndrome: a second report of full autopsy findings.

A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome.

P304

166-169

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P31

scholarly article

P356

10.1002/BDRA.23121

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P433

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P478

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P577

2013-03-06T00:00:00Z

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P698

23463671

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P932

3656659

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