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J Pié

Showing results (21-30 of 23) with videos related to

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Archives of Biochemistry and Biophysics|January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patientsC H Casale, N Casals, J Pié, et al.
Clinical Genetics|May 21, 2013
Could a patient with SMC1A duplication be classified as a human cohesinopathy?C Baquero-Montoya, M C Gil-Rodríguez, M E Teresa-Rodrigo, et al.
Clinical Genetics|December 17, 2015
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionI Parenti, C Gervasini, J Pozojevic, et al.
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Showing results (21-30 of 23) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 23 results.
Archives of Biochemistry and Biophysics|January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patientsC H Casale, N Casals, J Pié, et al.
Clinical Genetics|May 21, 2013
Could a patient with SMC1A duplication be classified as a human cohesinopathy?C Baquero-Montoya, M C Gil-Rodríguez, M E Teresa-Rodrigo, et al.
Clinical Genetics|December 17, 2015
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk predictionI Parenti, C Gervasini, J Pozojevic, et al.
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