(Q51891178)

English

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

scientific article published in July 2008

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scholarly article

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6 January 2020

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence (English)

1 reference

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6 January 2020

7

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6 January 2020

Victor L Ruiz-Perez

13

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6 January 2020

Samia A Temtamy

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6 January 2020

2

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6 January 2020

9

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6 January 2020

Judith A Goodship

12

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Judith A Goodship

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6 January 2020

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Maria Valencia

3

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6 January 2020

Guido Cocchi

4

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6 January 2020

Maria Pacheco

5

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6 January 2020

Adel M Ashour

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6 January 2020

Sanaa M H Helmy

8

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6 January 2020

Michael Wright

10

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6 January 2020

Pablo Lapunzina

11

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6 January 2020

publication date

1 July 2008

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6 January 2020

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6 January 2020

29

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6 January 2020

7

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6 January 2020

931-938

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6 January 2020

Sonic hedgehog control of size and shape in midbrain pattern formation

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Progress in understanding the biology of the human mutagen LINE-1.

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Ellis-van Creveld syndrome

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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

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Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

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A comprehensive analysis of common copy-number variations in the human genome

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