Nadia Bahi‐Buisson

Author

Nadia Bahi‐Buisson

Also Known As

Bahi-Buisson, Nadia, Jean-François Deleuze, N Bahi-Buisson, N Bahi‐Buisson, N. Bahi-Buisson, N. Bahi‐Buisson, NADIA BAHI‐BUISSON, Nadia Bahi-Buisson, Nadia Bahi-buisson, Nadia Bahi‐Buisson

266

Publications

13K

Citations

H-Index

137

Concepts

All Affiliations

Inserm Université Paris Cité Hôpital Necker-Enfants Malades Assistance Publique – Hôpitaux de Paris Délégation Paris 5

About

Nadia Bahi‐Buisson is an author at Inserm specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	36	70	4.6K
2	Social Sciences	13	13	795
3	Health Sciences	5	5	227
4	Public Health	4	4	157
5	Natural Sciences	3	3	426

Nadia Bahi‐Buisson

148

Publications

11.8K

Citations

H-Index

Page 1

	Year	Citations
Rett syndrome: Revised diagnostic criteria and nomenclature Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, Annals of Neurology	2010	1.4K
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Karine Poirier, Nicolas Lebrun, Loïc Broix, Nature Genetics Developmental AnomalyDevelopmental BiologyBrain DevelopmentDevelopmental GeneticsGenetics	2013	488
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek, Brain	2010	406
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females Christel Depienne, Delphine Bouteiller, Boris Keren, PLoS Genetics Mainly Affects FemalesDravet SyndromeMendelian DisorderGenetic DisorderMedicine	2009	368
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria Xavier H. Jaglin, Karine Poirier, Yoann Saillour, Nature Genetics BiologyNatural SciencesGeneticsMolecular BiologyAsymmetrical Polymicrogyria	2009	365
Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated Kai Zhang, Helen E. Foster, Arnaud Rondelet, Cell	2017	321
Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation Agatino Battaglia, H. Eugene Hoyme, Bruno Dallapiccola, PEDIATRICS	2008	309
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Brain	2014	307
Key clinical features to identify girls with CDKL5 mutations Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Brain Cdkl5-associated EncephalopathyDevelopmental AnomalyMendelian DisorderKey Clinical FeaturesRefractory Epilepsy	2008	285

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