(Q56241292)

Stanislas Lyonnet

8

0 references

Caroline Michot

Caroline Michot

2

0 references

Jean-Paul Bonnefont

Jean-Paul Bonnefont

9

0 references

Jeanne Amiel

Jeanne Amiel

11

0 references

Arnold Munnich

7

Arnold Munnich

0 references

Patrick Nitschké

4

Patrick Nitschke

0 references

Christine Bôle-Feysot

3

Christine Bole

0 references

Mathilde Nizon

5

Mathilde Nizon

0 references

author name string

Laurence Faivre

6

0 references

Vincent Des Portes

American Journal of Medical Genetics

10

0 references

language of work or name

English

0 references

publication date

6 April 2015

0 references

published in

0 references

volume

167

0 references

issue

8

0 references

page(s)

1908-1912

0 references

cites work

RPS19 mutations in patients with Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

An investigation of ribosomal protein L10 gene in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Prioritization of neurodevelopmental disease genes by discovery of new mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Translational regulator RpL10p/Grc5p interacts physically and functionally with Sed1p, a dynamic component of the yeast cell surface

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Functional interaction in establishment of ribosomal integrity between small subunit protein rpS6 and translational regulator rpL10/Grc5p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

The emerging roles of ribosome biogenesis in craniofacial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094

Rapid and accurate determination of (CAG)n repeats in the androgen receptor gene using polymerase chain reaction and automated fragment analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37094