Concepedia

Hadass Pri‐Chen

HP

Statistics

Publications

6

Citations

389

H-Index

6

Active since

2013

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Tel Aviv University

Edmond and Lily Safra Children's Hospital

Sheba Medical Center

Hadass Pri‐Chen is an author at National Human Genome Research Institute specializing in life sciences, genetics, and molecular genetics.

Publications per year

2013–2020

6

Publications

6

Hermansky–Pudlak syndrome: Mutation update

Marjan Huizing, May Christine V. Malicdan, Jennifer A. Wang et al. · Human Mutation · 2020 · 113 citations · Full text

, , +11

Cannabinoid CB1 receptor overactivity contributes to the pathogenesis of idiopathic pulmonary fibrosis

Bernadette R. Gochuico, Malliga R. Iyer, Tony Jourdan et al. · JCI Insight · 2017 · 86 citations · Full text

, , +15

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev et al. · Brain · 2017 · 64 citations · Full text

, , +17

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

May Christine V. Malicdan, Thierry Vilboux, Bruria Ben‐Zeev et al. · Human Mutation · 2017 · 53 citations · Full text

, , +17

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

Joshi Stephen, Thierry Vilboux, Yael Haberman et al. · European Journal of Human Genetics · 2016 · 51 citations · Full text

, , +16

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