Stéphane Romano - Concepedia

Author

Stéphane Romano

Also Known As

Stephane J. Romano, Stephane Romano, Stéphane Romano

Publications

700

Citations

H-Index

Concepts

All Affiliations

Stéphane Romano is an author at Hôpital Necker-Enfants Malades specializing in medicine, molecular genetics, and genetics.

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	614
2	Molecular Genetics	3	3	478
3	Pathology	2	2	243
4	Clinical Genetics	2	2	391
5	Hepatology	1	1	136

Stéphane Romano

Publications

644

Citations

H-Index

Page 1

	Year	Citations
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome Lekbir Baala, Stéphane Romano, Rana Khaddour, The American Journal of Human Genetics Developmental BiologyMendelian DisorderJoubert SyndromeMedicineGenetics	2006	235
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, The American Journal of Human Genetics UrologyGenetic DisorderGeneticsInherited Metabolic DiseaseRenal Pathology	2007	156
Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation Stéphane Romano, Vassili Valayannopoulos, Guy Touati, The Journal of Pediatrics TransplantationHepatologyKidney TransplantationPhysiologyLiver Transplantation	2009	136
<i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi, Human Mutation Developmental AnomalyDevelopmental BiologyMendelian DisorderJoubert SyndromeBrain Malformation	2009	87
Multiple sources of metabolic disturbance in<i>ETHE1</i>‐related ethylmalonic encephalopathy Magalie Barth, Chris Ottolenghi, Laurence Hubert, Journal of Inherited Metabolic Disease	2010	30

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