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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 1 |
2023 | 2 |
2024 | 0 |
PubMed for id: 1713432
4 results
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Page 1
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
J Mol Neurosci. 2022 Nov;72(11):2242-2251. doi: 10.1007/s12031-022-02074-y. Epub 2022 Oct 17.
J Mol Neurosci. 2022.
PMID: 36251212
Free PMC article.
Review.
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS.
Elbendary HM, et al.
Clin Genet. 2023 Sep;104(3):344-349. doi: 10.1111/cge.14348. Epub 2023 May 9.
Clin Genet. 2023.
PMID: 37157980
Review.
Item in Clipboard
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Muzammal M, Ahmad S, Ali MZ, Khan MA.
Muzammal M, et al.
Ann Hum Genet. 2021 Sep;85(5):147-154. doi: 10.1111/ahg.12425. Epub 2021 Apr 21.
Ann Hum Genet. 2021.
PMID: 33881165
Review.
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Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H.
Matza Porges S, et al.
Eur J Med Genet. 2023 Oct;66(10):104825. doi: 10.1016/j.ejmg.2023.104825. Epub 2023 Sep 1.
Eur J Med Genet. 2023.
PMID: 37659595
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