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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Furlan F, Rovelli A, Rigoldi M, Filocamo M, Tappino B, Friday D, Gasperini S, Mariani S, Izzi C, Bondioni MP, Gellera C, Venerando A, Villa N, Del Carmen Rodriguez Perez M, Pavan F, Biondi A, Parini R. Furlan F, et al. Among authors: mariani s. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):128. doi: 10.1186/s13052-018-0566-x. Ital J Pediatr. 2018. PMID: 30442200 Free PMC article.
Novel neurofibromatosis type 2 mutation presenting with status epilepticus.
DiFrancesco JC, Sestini R, Cossu F, Bolognesi M, Sala E, Mariani S, Saracchi E, Papi L, Ferrarese C. DiFrancesco JC, et al. Among authors: mariani s. Epileptic Disord. 2014 Mar;16(1):132-7. doi: 10.1684/epd.2014.0647. Epileptic Disord. 2014. PMID: 24667735 Free article.
Measurement of CP Violation Observables in D^{+}→K^{-}K^{+}π^{+} Decays.
Aaij R, Abdelmotteleb ASW, Abellan Beteta C, Abudinén F, Ackernley T, Adefisoye AA, Adeva B, Adinolfi M, Adlarson P, Agapopoulou C, Aidala CA, Ajaltouni Z, Akar S, Akiba K, Albicocco P, Albrecht J, Alessio F, Alexander M, Aliouche Z, Alvarez Cartelle P, Amalric R, Amato S, Amey JL, Amhis Y, An L, Anderlini L, Andersson M, Andreianov A, Andreola P, Andreotti M, Andreou D, Anelli A, Ao D, Archilli F, Argenton M, Arguedas Cuendis S, Artamonov A, Artuso M, Aslanides E, Ataíde Da Silva R, Atzeni M, Audurier B, Bacher D, Bachiller Perea I, Bachmann S, Bachmayer M, Back JJ, Baladron Rodriguez P, Balagura V, Baldini W, Balzani L, Bao H, Baptista de Souza Leite J, Barbero Pretel C, Barbetti M, Barbosa IR, Barlow RJ, Barnyakov M, Barsuk S, Barter W, Bartolini M, Bartz J, Basels JM, Bashir S, Bassi G, Batsukh B, Battista PB, Bay A, Beck A, Becker M, Bedeschi F, Bediaga IB, Behling NB, Belin S, Bellee V, Belous K, Belov I, Belyaev I, Benane G, Bencivenni G, Ben-Haim E, Berezhnoy A, Bernet R, Bernet Andres S, Bertolin A, Betancourt C, Betti F, Bex J, Bezshyiko I, Bhom J, Bieker MS, Biesuz NV, Billoir P, Biolchini A, Birch M, Bishop FCR, Bitadze A, Bizzeti A, Blake T, Blanc F, Blank JE, Blusk S… See abstract for full author list ➔ Aaij R, et al. Among authors: mariani s. Phys Rev Lett. 2024 Dec 20;133(25):251801. doi: 10.1103/PhysRevLett.133.251801. Phys Rev Lett. 2024. PMID: 39752695
747 results