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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: tamburro s. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: tamburro s. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 Free PMC article.
Adenomyosis and pregnant uterus: An alliance doomed to rupture?
Nohuz E, Albaut M, Bayeh S, Tamburro S, Chêne G. Nohuz E, et al. Among authors: tamburro s. J Gynecol Obstet Hum Reprod. 2020 Feb;49(2):101632. doi: 10.1016/j.jogoh.2019.101632. Epub 2019 Sep 6. J Gynecol Obstet Hum Reprod. 2020. PMID: 31499284 No abstract available.
Pharmacomechanical Catheter-Directed Thrombolysis for Deep-Vein Thrombosis.
Vedantham S, Goldhaber SZ, Julian JA, Kahn SR, Jaff MR, Cohen DJ, Magnuson E, Razavi MK, Comerota AJ, Gornik HL, Murphy TP, Lewis L, Duncan JR, Nieters P, Derfler MC, Filion M, Gu CS, Kee S, Schneider J, Saad N, Blinder M, Moll S, Sacks D, Lin J, Rundback J, Garcia M, Razdan R, VanderWoude E, Marques V, Kearon C; ATTRACT Trial Investigators. Vedantham S, et al. N Engl J Med. 2017 Dec 7;377(23):2240-2252. doi: 10.1056/NEJMoa1615066. N Engl J Med. 2017. PMID: 29211671 Free PMC article. Clinical Trial.
What is your diagnosis?
Nohuz E, Albaut M, Kullab S, Fattouh M, Tamburro S, Dauplat MM, Benoît C, Durando X. Nohuz E, et al. Among authors: tamburro s. J Turk Ger Gynecol Assoc. 2014 Dec 1;15(4):262-3. doi: 10.5152/jtgga.2014.14189. eCollection 2014. J Turk Ger Gynecol Assoc. 2014. PMID: 25584039 Free PMC article. No abstract available.
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