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Bernard Aral

Showing results (1-10 of 34) with videos related to

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Molecular Genetics and Metabolism|September 5, 2002
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 geneRunu Dey, Bernard Aral, Marc Abitbol, et al.
La Revue De Medecine Interne|July 3, 2026
[Polycythemia associated chronic haemolysis]Nada Maaziz, Mathieu Wémeau, Bernard Aral, et al.
Arthritis and Rheumatism|July 1, 2009
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferaseHang-Korng Ea, Thomas Bardin, H A Jinnah, et al.
European Journal of Medical Genetics|October 8, 2013
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature reviewEliane Chouery, Claire Guissart, Hala Mégarbané, et al.
Clinical Case Reports|June 2, 2020
Diagnosis of exon 12-positive polycythemia vera rescued by NGSAntoine Geay, Bernard Aral, Valentin Bourgeois, et al.
Annals of Neurology|January 31, 2003
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 geneRunu Dey, Manuele Mine, Isabelle Desguerre, et al.
The Turkish Journal of Pediatrics|March 4, 2010
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same familyOzmert M A Ozdemir, Ilknur Kiliç, Tamer Ozsari, et al.
Genes|May 27, 2023
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?Nada Maaziz, Céline Garrec, Fabrice Airaud, et al.
Molecular Genetics and Metabolism|October 1, 2013
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferaseIrène Ceballos-Picot, Franck Augé, Rong Fu, et al.
Experimental Hematology & Oncology|February 28, 2018
Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignanciesJulien Magne, Alizée Jenvrin, Adrien Chauchet, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|September 5, 2002
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 geneRunu Dey, Bernard Aral, Marc Abitbol, et al.
La Revue De Medecine Interne|July 3, 2026
[Polycythemia associated chronic haemolysis]Nada Maaziz, Mathieu Wémeau, Bernard Aral, et al.
Arthritis and Rheumatism|July 1, 2009
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferaseHang-Korng Ea, Thomas Bardin, H A Jinnah, et al.
European Journal of Medical Genetics|October 8, 2013
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature reviewEliane Chouery, Claire Guissart, Hala Mégarbané, et al.
Clinical Case Reports|June 2, 2020
Diagnosis of exon 12-positive polycythemia vera rescued by NGSAntoine Geay, Bernard Aral, Valentin Bourgeois, et al.
Annals of Neurology|January 31, 2003
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 geneRunu Dey, Manuele Mine, Isabelle Desguerre, et al.
The Turkish Journal of Pediatrics|March 4, 2010
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same familyOzmert M A Ozdemir, Ilknur Kiliç, Tamer Ozsari, et al.
Genes|May 27, 2023
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?Nada Maaziz, Céline Garrec, Fabrice Airaud, et al.
Molecular Genetics and Metabolism|October 1, 2013
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferaseIrène Ceballos-Picot, Franck Augé, Rong Fu, et al.
Experimental Hematology & Oncology|February 28, 2018
Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignanciesJulien Magne, Alizée Jenvrin, Adrien Chauchet, et al.
Pageof 4