Inas Mazen - Concepedia

Author

Inas Mazen

Also Known As

I M Mazen, I Mazen, I. Mazen, I.A. Mazen, I.M. Mazen, Inas M. Mazen, Inas Mazen, Inas Mohammad Mazen, Mazen I, Mazen, I.

113

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

National Research Centre National Water Research Center Institut Pasteur National Human Genome Research Institute Cairo University

About

Inas Mazen is an author at National Research Centre specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	17	504
2	Education	1	1	40
3	Engineering	1	1	12
4	Health Sciences	1	1	114
5	Natural Sciences	1	1	26

Inas Mazen

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients Laurent Maı̈moun, Pascal Philibert, B. Cammas, The Journal of Clinical Endocrinology & Metabolism	2010	210
Changes Over Time in Sex Assignment for Disorders of Sex Development Zofia Kolesińska, S. Faisal Ahmed, Marek Niedziela, PEDIATRICS	2014	122
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency Birgit Köhler, Lin Lin, Inas Mazen, European Journal of Endocrinology	2009	120
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient Inas Mazen, Mona El Gammal, Mohamed S. Abdel‐Hamid, Molecular Genetics and Metabolism ObesityMetabolic SyndromeObese Egyptian PatientGenetic DisorderGenetics	2009	114
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene Martin Wabitsch, Jan‐Bernd Funcke, Julia von Schnurbein, The Journal of Clinical Endocrinology & Metabolism	2015	99
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene Caroline Eozénou, Nitzan Gonen, María Sol Touzón, Proceedings of the National Academy of Sciences	2020	84
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo, Human Molecular Genetics	2018	82
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity Inas Mazen, Mona El Gammal, Mohamed S. Abdel‐Hamid, Molecular Genetics and Metabolism ObesityMetabolic SyndromeAllelic VariantDevelopmental BiologyLeptin Receptor Gene	2011	71
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome Ken McElreavey, Anne Jørgensen, Caroline Eozénou, Genetics in Medicine	2019	62
Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation Inas Mazen, Yehia Z. Gad, Mona Hafez, Clinical Endocrinology	2003	61

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