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Publications by J. S. Hahn

Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome

Pediatrics
Child HealthPediatricsPerinatology
2003English

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Síndrome De Coffin-Lowry

Universitas Médica
2010English

Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome

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1999English

Enhanced Accumulation of Hyaluronate in the Culture of Skin Fibroblasts From Two Patients With Coffin-Lowry Syndrome.

Tohoku Journal of Experimental Medicine
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1989English

Lowry-MacLean Syndrome

2020English

X-Linked Coffin-Lowry Syndrome (CLS, MIM 303600, RPS6KA3 Gene, Protein Product Known Under Various Names: Pp90rsk2, RSK2, ISPK, MAPKAP1)

European Journal of Human Genetics
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2002English

OP23.09: Prenatal Diagnosis of Coffin Siris Syndrome

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2018English

Balneotherapy in an Extremely Rare Condition – Patterson-Lowry Syndrome

Journal of IMAB - Annual Proceeding (Scientific Papers)
Dentistry
2019English

Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations

American Journal of Human Genetics
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1998English

Recurrent Intracranial Hemorrhagic Episodes in Hepatopulmonary Syndrome.

Internal Medicine
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1992English

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