Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination (Q28685920)

Elaine T Lim

4

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Andrew A Dwyer

Andrew Dwyer

9

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Janet E. Hall

Janet E Hall

7

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Nicholas Katsanis

Nicholas Katsanis

20

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Aubrey Milunsky

Aubrey Milunsky

15

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Mark Joseph Daly

19

Mark J Daly

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Lacey Plummer

10

Lacey Plummer

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Stephanie B Seminara

21

Stephanie B Seminara

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E. Tessa Hedley-Whyte

18

E Tessa Hedley-Whyte

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author name string

David H Margolin

1

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Maria Kousi

2

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Yee-Ming Chan

3

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Marios Hadjivassiliou

6

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Ibrahim Adam

8

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Stephanie V Aldrin

11

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Julia O'Rourke

12

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Andrew Kirby

13

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Kasper Lage

14

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Jeff M Milunsky

16

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Jennifer Chan

The New England Journal of Medicine

17

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language of work or name

English

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publication date

23 May 2013

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published in

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volume

368

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issue

21

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page(s)

1992-2003

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cites work

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Dissecting spatio-temporal protein networks driving human heart development and related disorders

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

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3 June 2018

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3 June 2018

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Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency

3 June 2018

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3 June 2018

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27 November 2018

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27 November 2018

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12 December 2020

Familial hypogonadotrophic eunuchoidism with cerebellar ataxia

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Frontal-executive dysfunction in early onset cerebellar ataxia of Holmes' type

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