Stephen F. Pastore - Search Results

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Year	Number of Results
2019	1
2021	1
2022	1

Page 1

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.

Pastore SF, Muhammad T, Harripaul R, Lau R, Khan MTM, Khan MI, Islam O, Kang C, Ayub M, Jelani M, Vincent JB. Pastore SF, et al. Sci Rep. 2021 Nov 30;11(1):23113. doi: 10.1038/s41598-021-02599-z. Sci Rep. 2021. PMID: 34848785 Free PMC article.

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.

Pastore SF, Ko SY, Frankland PW, Hamel PA, Vincent JB. Pastore SF, et al. Genes (Basel). 2022 Mar 17;13(3):527. doi: 10.3390/genes13030527. Genes (Basel). 2022. PMID: 35328080 Free PMC article. Review.

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM. Ouyang Q, et al. Among authors: pastore sf. Hum Genet. 2019 Oct;138(10):1183-1200. doi: 10.1007/s00439-019-02057-x. Epub 2019 Aug 30. Hum Genet. 2019. PMID: 31471722 Free PMC article.

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