(Q34811039)

4 August 2017

1 reference

title

Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes (English)

1 reference

4 August 2017

Coffin-Lowry syndrome

1 reference

Alasdair G W Hunter

1

1 reference

4 August 2017

1 September 2002

1 reference

American Journal of Medical Genetics Part A

4 August 2017

1 reference

4 August 2017

111

1 reference

4 August 2017

345-355

1 reference

4 August 2017

4

1 reference

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome

4 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

"Cataplexy" in Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

The Coffin-Lowry syndrome. A study of two new index patients and their families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

A New Dominant Gene Mental Retardation Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

Late-onset sensorineural hearing loss in Coffin-Lowry syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

Brief clinical report: early recognition of the Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10574

21 January 2018

Identifiers

DOI

10.1002/AJMG.10574

1 reference

4 August 2017

1 reference

PubMed ID

12210291