Roxana Kariminejad - Concepedia

Author

Roxana Kariminejad

University of Social Welfare and Rehabilitation Sciences ORCID

Also Known As

Kariminejad R, Kariminejad, Roxana, Nathalie Douet-Guilbert, R. Karimi-Nejad, R. Kariminejad, ROXANA KARIMI-NEJAD, Roxana Karimi-Nejad, Roxana Kariminejad, Roxana Karimi‐Nejad

Publications

2.1K

Citations

H-Index

Concepts

All Affiliations

University of Social Welfare and Rehabilitation Sciences Max Planck Institute for Molecular Genetics Isfahan Fertility and Infertility Center Max Planck Society Yahoo (Spain)

About

Roxana Kariminejad is an author at University of Social Welfare and Rehabilitation Sciences specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	1.6K
2	Education	1	1	10
3	Social Sciences	1	1	14
4	Genetic Medicine	1	1	14
5	Immunology	1	1	45

Roxana Kariminejad

Publications

Citations

H-Index

Page 1

	Year	Citations
Deep sequencing reveals 50 novel genes for recessive cognitive disorders Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Nature Neurodegenerative DiseasesRecessive Cognitive DisordersGenetic DisorderGeneticsNeuroscience	2011	975
THE β-THALASSEMIA MUTATION SPECTRUM IN THE IRANIAN POPULATION Hossein Najmabadi, Roxana Kariminejad, Solmaz Sahebjam, Hemoglobin	2001	154
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome Alma Kuechler, Alexander M. Zink, Thomas Wieland, European Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMicrodeletion 3P25.3	2014	143
A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, The American Journal of Human Genetics Developmental BiologyMolecular NeuroscienceGenetic DisorderGeneticsPsychiatric Genetics	2008	139
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 Ariana Kariminejad, Roxana Kariminejad, Moshtagh Azadeh, European Journal of Human Genetics Developmental AnomalyPericentric InversionCytogeneticsPediatricsNormal Child	2011	80
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, European Journal of Human Genetics Omim 612713Next GenerationDevelopmental BiologyMendelian DisorderHomozygous Frameshift Mutation	2010	66
Fourteen-Year Experience of Prenatal Diagnosis of Thalassemia in Iran Hossein Najmabadi, Alireza Ghamari, Farhad Sahebjam, Public Health Genomics	2006	64
Elucidating the spectrum of -thalassemia mutations in Iran Valeh Hadavi, Amir Hossein Taromchi, Mahdi Malekpour, Haematologica	2007	57
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations M. J. Valstar, Aida M. Bertoli‐Avella, Marja W. Wessels, Human Mutation Neurological DisorderImmunodeficienciesGeneticsImmunologyPathology	2010	45
Double de novo mutations ofELA2 in cyclic and severe congenital neutropenia Stephen J. Salipante, Kathleen F. Benson, Joanna Luty, Human Mutation	2007	36

Page 1