Concepedia

Shani Ben Harouch

SB

Statistics

Publications

2

Citations

36

H-Index

2

Active since

2017

Affiliations

Western Galilee Hospital(Current)

Bar-Ilan University

Shani Ben Harouch is an author at Western Galilee Hospital specializing in medicine, pathology, and sequencing.

Top concepts

MedicinePathologyGeneticsGenomicsNeurologySequencingNeurogeneticsRare DiseasesNeuropathologyMolecular Diagnostics

Publications per year

2017–2020

2

Publications

2

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

Ayalla Fedida, Shani Ben Harouch, Limor Kalfon et al. · European Journal of Medical Genetics · 2020 · 19 citations

Novel Variant, Sedaghatian-type Spondylometaphyseal Dysplasia, Mendelian Disorder +11

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

Z. Leibovitz, Hanna Mandel, Tzipora C. Falik‐Zaccai et al. · European Journal of Paediatric Neurology · 2017 · 17 citations

Rare Diseases, Mendelian Disorder, Neurological Disorder +12

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