Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2019 | 1 |
2020 | 2 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Microcephaly, epilepsy, and diabetes syndrome 2"
Page 1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31.
Am J Hum Genet. 2020.
PMID: 32738225
Free PMC article.
Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). ...
Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuro …
Neuropsychiatric "Comorbidity" as Causal Influence in Autism.
Hawks ZW, Constantino JN.
Hawks ZW, et al.
J Am Acad Child Adolesc Psychiatry. 2020 Feb;59(2):229-235. doi: 10.1016/j.jaac.2019.07.008. Epub 2019 Jul 22.
J Am Acad Child Adolesc Psychiatry. 2020.
PMID: 31344460
Free PMC article.
Review.
Behavioral comorbidity is the rule rather than the exception in autism spectrum disorder (ASD), and the co-occurrence of autistic traits with subclinical manifestations of other psychiatric syndromes (eg, anxiety, developmental coordination disorder) extends to the general …
Behavioral comorbidity is the rule rather than the exception in autism spectrum disorder (ASD), and the co-occurrence of autistic traits wit …
Item in Clipboard
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM.
Skopkova M, et al.
Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23.
Hum Mutat. 2017.
PMID: 28055140
Free PMC article.
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unkn …
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response ha …
Item in Clipboard
Cite
Cite