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Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.
Mol Diagn Ther. 2022 Sep;26(5):561-568. doi: 10.1007/s40291-022-00601-6. Epub 2022 Jul 7.
Mol Diagn Ther. 2022.
PMID: 35796944
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS.
Yogev Y, et al. Among authors: michaelovsky a.
Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10.
Eur J Hum Genet. 2017.
PMID: 28488683
Free PMC article.
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Proceedings of the 14th International Newborn Brain Conference: Long-term outcome studies, developmental care, palliative care, ethical dilemmas, and challenging clinical scenarios in neonatal neurology.
Abramsky R, Alkhadem Z, Alsup S, Anwar T, Arroyo M, Bonfanti C, Boomsma M, Boswinkel V, Cabacungan E, Chang T, Cimino C, Cohen S, Cuzino IA, de Vries L, Demšar J, DiPietro J, Dündar NO, Engur D, Fontana C, Fumagalli M, Gangi S, Garavatti E, Garcia R, Gencpinar P, Glennon C, Goldshtein M, Gont B, Herrera S, Iriciuc M, Kavčič A, Li RP, Lowe C, Marks K, Meijler G, Meloni S, Michaelovsky A, Mosca F, Nijholt I, Farkash Novik E, Obeid R, Ondusko DS, Ozalvo D, Pesenti N, Petcariu B, Phillips J, Porro M, Roth E, Šalamon AS, Schiavolin P, Seghete KM, Shany E, Shelef I, Simsir ME, Soykan A, Toma AI, Tsuchida T, Van Erkel F, Yilmaz C, Zahalka A, Zengi I.
Abramsky R, et al. Among authors: michaelovsky a.
J Neonatal Perinatal Med. 2023;16(s1):S103-S118. doi: 10.3233/NPM-239006.
J Neonatal Perinatal Med. 2023.
PMID: 37599545
No abstract available.
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