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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: murru fm. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
When fingers point to the diagnosis.
Trombetta A, Magnolato A, Bruno I, Rabach I, Murru FM, Faletra F. Trombetta A, et al. Among authors: murru fm. Arch Dis Child. 2020 Nov;105(11):1117. doi: 10.1136/archdischild-2019-317514. Epub 2019 Aug 10. Arch Dis Child. 2020. PMID: 31401559 No abstract available.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Among authors: murru fm. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
Adolescent Female with Severe Thigh Pain after Doing Splits.
Trombetta A, Barbi E, Murru FM, Cozzi G. Trombetta A, et al. Among authors: murru fm. J Pediatr. 2020 Oct;225:274. doi: 10.1016/j.jpeds.2020.06.087. Epub 2020 Jul 3. J Pediatr. 2020. PMID: 32629009 No abstract available.
Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance.
Fantasia I, Ciardo C, Bracalente G, Filippi E, Murru FM, Spezzacatene A, Bin M, Mendez Quintero O, Montaguti E, Lees C, Papanikolaou K, Pilu G, Prefumo F, Thilaganathan B, Stampalija T. Fantasia I, et al. Among authors: murru fm. Acta Obstet Gynecol Scand. 2023 Jun;102(6):744-750. doi: 10.1111/aogs.14575. Epub 2023 Apr 14. Acta Obstet Gynecol Scand. 2023. PMID: 37059118 Free PMC article.
37 results