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[Clear all](http://pubmed.ncbi.nlm.nih.gov/?term=Amish+autism+prevalence#) Select search result to email or save Page 1 - [x] 1 Cite [Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.](http://pubmed.ncbi.nlm.nih.gov/36868303/) Chinoy A, Nicholson J, Skae M, Hannan FM, Thakker RV, Mughal MZ, Padidela R.Chinoy A, et al.J Pediatr. 2023 Jun;257:113367. doi: 10.1016/j.jpeds.2023.02.013. Epub 2023 Mar 2.J Pediatr. 2023.PMID: 36868303 OBJECTIVES: To evaluate the **prevalence** and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3). ...All had neurodevelopmental abnormalities in childhood consisting of either global developmental delay, motor de … OBJECTIVES: To evaluate the **prevalence** and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hyp … Cite Item in Clipboard - [x] 2 Cite [Clinical variability of genetic isolates of Cohen syndrome.](http://pubmed.ncbi.nlm.nih.gov/21418059/) Douzgou S, Petersen MB.Douzgou S, et al.Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7.Clin Genet. 2011.PMID: 21418059 Review. Cohen syndrome (CS) (OMIM#216550) is an uncommon autosomal recessive developmental **disorder** that has been attributed to mutations in the COH1 gene in at least 200 patients of diverse ethnic background so far. ...Furthermore, there is a wide clinical variability of CS in th … Cohen syndrome (CS) (OMIM#216550) is an uncommon autosomal recessive developmental **disorder** that has been attributed to mutations in … Cite Item in Clipboard - [x] 3 Cite [Clinical, cellular, and genomic consequences of a population-enriched _SETD1A_ missense variant.](http://pubmed.ncbi.nlm.nih.gov/42523465/) Lease R, Oshone RT, Ahmed Y, Ali S, Arjona S, Choe J, Colantuoni C, Cortes-Gutierrez M, Herb BR, Humphries EM, Mocci E, O'Hara-Payne R, Kuehner R, Damcott C, Sampath H, Shaub S, Woelfel K, Wolford C, Ahn K, Detera-Wadleigh S, Markx S, Gogos JA, Kochunov P, Pollin TI, Postolache T, Shuldiner AR, McMahon FJ, Hong LE, Mitchell BD, Ament SA.Lease R, et al.Res Sq [Preprint]. 2026 Jul 13:rs.3.rs-9900286. doi: 10.21203/rs.3.rs-9900286/v1.Res Sq. 2026.PMID: 42523465 Free PMC article.Preprint. Exome sequencing (n=3,736) revealed a population-enriched SETD1A missense variant (P596L) in the Lancaster Old Order **Amish** founder population, presenting a unique opportunity to elucidate variant-specific, multi-scale mechanisms. ...Multi-omic profiling revealed dysregulat … Exome sequencing (n=3,736) revealed a population-enriched SETD1A missense variant (P596L) in the Lancaster Old Order **Amish** founder po … Cite Item in Clipboard Cite Copy Download .nbib.nbib Format: [x] Cite Copy Download .nbib.nbib Format: ![Image 14: first page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/double-chevron-left-thin-blue.svg)![Image 15: first page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/double-chevron-left-thin-grey.svg)First ![Image 16: previous page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/chevron-left-thin-blue.svg)![Image 17: previous page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/chevron-left-thin-grey.svg)Prev Page of 1 Next ![Image 18: next page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/chevron-right-thin-blue.svg)![Image 19: next page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/chevron-right-thin-grey.svg)Last ![Image 20: last page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/double-chevron-right-thin-blue.svg)![Image 21: last page](https://cdn.ncbi.nlm.nih.gov/pubmed/af7de7da-df5d-41c6-8de4-8c266af8ccfb/core/images/double-chevron-right-thin-grey.svg) **Send To** * [Clipboard](http://pubmed.ncbi.nlm.nih.gov/?term=Amish+autism+prevalence#) * [Email](https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F%3Fterm%3DAmish%2Bautism%2Bprevalence%23open-email-panel) * [Save](http://pubmed.ncbi.nlm.nih.gov/?term=Amish+autism+prevalence#) * [My Bibliography](https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F%3Fterm%3DAmish%2Bautism%2Bprevalence%23open-bibliography-panel) * [Collections](https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F%3Fterm%3DAmish%2Bautism%2Bprevalence%23open-collections-panel) * [Citation Manager](http://pubmed.ncbi.nlm.nih.gov/?term=Amish+autism+prevalence#) [x] ARTICLE TYPE * - 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