(Q28204904)

6

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Koen Devriendt

8

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John Marius Opitz

9

object named as

John Opitz

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Ben Hamel

7

object named as

Ben Hamel

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author name string

Jennifer Winter

1

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Tanja Lehmann

2

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Vanessa Suckow

3

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Zofia Kijas

4

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Andreas Kulozik

5

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Steffen Lenzner

10

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Susann Schweiger

https://scigraph.springernature.com/pub.10.1007/s00439-002-0901-5

12

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language of work or name

English

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publication date

March 2003

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published in

Human Genetics

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volume

112

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page(s)

249-54

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issue

3

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exact match

0 references

cites work

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

1 reference

12 December 2020

Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication

1 reference

12 December 2020

The Opitz syndrome gene product, MID1, associates with microtubules

1 reference

12 December 2020

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

1 reference

12 December 2020

Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome

1 reference

12 December 2020

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

12 December 2020

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

1 reference

12 December 2020

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

1 reference

12 December 2020

Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22

1 reference

12 December 2020

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

12 December 2020