(Q24630706)

spondyloepimetaphyseal dysplasia with multiple dislocations

inferred from title

1 reference

2

Namshin Kim

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Tae-Joon Cho

Tae-Joon Cho

22

0 references

Daehee Kang

19

Daehee Kang

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Hae-Ryong Song

7

Hae Ryong Song

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Ji-Yeob Choi

18

Ji-Yeob Choi

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Jeong Sun Seo

17

Jeong-Sun Seo

0 references

Gen Nishimura

5

Gen Nishimura

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author name string

Byung-Joo Min

1

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Taesu Chung

3

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Ok-Hwa Kim

4

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Chin Youb Chung

6

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Hyun Woo Kim

8

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Hye Ran Lee

9

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Jiwoong Kim

10

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Tae-Hoon Kang

11

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Myung-Eui Seo

12

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San-Deok Yang

13

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Do-Hwan Kim

14

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Seung-Bok Lee

15

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Jong-Il Kim

16

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Dongsup Kim

20

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Woong-Yang Park

American Journal of Human Genetics

21

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language of work or name

English

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publication date

9 December 2011

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published in

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volume

89

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issue

6

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page(s)

760-6

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cites work

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

1 reference

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7 April 2017

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7 April 2017

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Kid, a novel kinesin-like DNA binding protein, is localized to chromosomes and the mitotic spindle

7 April 2017

1 reference

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The crystal structure of dimeric kinesin and implications for microtubule-dependent motility

7 April 2017

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7 April 2017

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Comparative protein modelling by satisfaction of spatial restraints

7 April 2017

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A role for the primary cilium in Notch signaling and epidermal differentiation during skin development

7 April 2017

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7 April 2017

1 reference

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The Xenopus chromokinesin Xkid is essential for metaphase chromosome alignment and must be degraded to allow anaphase chromosome movement

7 April 2017

1 reference

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7 April 2017

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A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients

27 September 2017

1 reference

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A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

27 September 2017

1 reference

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Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis

27 September 2017

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Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals.

30 May 2018

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Nosology and classification of genetic skeletal disorders: 2010 revision.

28 November 2018

1 reference

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Kid-mediated chromosome compaction ensures proper nuclear envelope formation

28 November 2018

1 reference

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Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

28 November 2018

1 reference

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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance

28 November 2018

1 reference

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Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients

28 November 2018

1 reference

12 December 2020

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

1 reference

12 December 2020

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

1 reference

12 December 2020

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

12 December 2020

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance

1 reference

12 December 2020

10.1016/J.AJHG.2011.10.015

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

22152677

1 reference