P. Hemati

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

I. Scheffer, D. Goldstein, H. Goodkin, 2019, Epilepsia.

Cognitive Assessment of 15 q 11 . 2 Deletion Carriers Reveals Domain Specific Impairments

P. Hemati, 2016 .

4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency

C. Boerkoel, P. Hemati, C. du Souich, 2015, American journal of medical genetics. Part A.

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

D. Goldstein, S. Petrovski, V. Aggarwal, 2017, American journal of medical genetics. Part A.

Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage

Young Jae Woo, B. Abrahams, C. Bagni, 2019, Biological Psychiatry.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

Online Cognitive Assessment of 15q11.2 Deletion Carriers Reveals Domain Specific Impairments

P. Hemati, 2015 .

Screening for Microalbuminuria in the early detection of diabetic nephropathy: A cheap and simple method

M. Mahmoudi, R. Jalili, P. Hemati, 2002 .

Unresectable Hepatocellular Carcinoma: A Review of New Advances with Focus on Targeted Therapy and Immunotherapy

M. Naimi-Jamal, P. Hemati, Bahareh Farasati Far, 2023, Livers.