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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
1953 2
1963 1
1967 3
1969 1
1972 3
1973 4
1975 1
1979 2
1980 2
1982 2
1983 1
1984 3
1985 5
1986 2
1987 3
1988 2
1989 8
1990 6
1991 11
1992 6
1993 4
1994 6
1995 6
1996 8
1997 4
1998 9
1999 9
2000 7
2001 8
2002 8
2003 5
2004 3
2005 6
2006 10
2007 9
2008 16
2009 20
2010 21
2011 22
2012 32
2013 26
2014 19
2015 20
2016 15
2017 19
2018 17
2019 20
2020 30
2021 29
2022 33
2023 35
2024 29

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522 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: porta f. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Rituximab for High-Risk, Mature B-Cell Non-Hodgkin's Lymphoma in Children.
Minard-Colin V, Aupérin A, Pillon M, Burke GAA, Barkauskas DA, Wheatley K, Delgado RF, Alexander S, Uyttebroeck A, Bollard CM, Zsiros J, Csoka M, Kazanowska B, Chiang AK, Miles RR, Wotherspoon A, Adamson PC, Vassal G, Patte C, Gross TG; European Intergroup for Childhood Non-Hodgkin Lymphoma; Children’s Oncology Group. Minard-Colin V, et al. N Engl J Med. 2020 Jun 4;382(23):2207-2219. doi: 10.1056/NEJMoa1915315. N Engl J Med. 2020. PMID: 32492302 Free PMC article. Clinical Trial.
Breast Cancer with Brain Metastasis: Molecular Insights and Clinical Management.
Ivanova M, Porta FM, Giugliano F, Frascarelli C, Sajjadi E, Venetis K, Cursano G, Mazzarol G, Guerini-Rocco E, Curigliano G, Criscitiello C, Fusco N. Ivanova M, et al. Among authors: porta fm. Genes (Basel). 2023 May 26;14(6):1160. doi: 10.3390/genes14061160. Genes (Basel). 2023. PMID: 37372340 Free PMC article. Review.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: porta f. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Standardized pathology report for HER2 testing in compliance with 2023 ASCO/CAP updates and 2023 ESMO consensus statements on HER2-low breast cancer.
Ivanova M, Porta FM, D'Ercole M, Pescia C, Sajjadi E, Cursano G, De Camilli E, Pala O, Mazzarol G, Venetis K, Guerini-Rocco E, Curigliano G, Viale G, Fusco N. Ivanova M, et al. Among authors: porta fm. Virchows Arch. 2024 Jan;484(1):3-14. doi: 10.1007/s00428-023-03656-w. Epub 2023 Sep 28. Virchows Arch. 2024. PMID: 37770765 Free PMC article. Review.
Axatilimab in Recurrent or Refractory Chronic Graft-versus-Host Disease.
Wolff D, Cutler C, Lee SJ, Pusic I, Bittencourt H, White J, Hamadani M, Arai S, Salhotra A, Perez-Simon JA, Alousi A, Choe H, Kwon M, Bermúdez A, Kim I, Socié G, Chhabra S, Radojcic V, O'Toole T, Tian C, Ordentlich P, DeFilipp Z, Kitko CL; AGAVE-201 Investigators. Wolff D, et al. N Engl J Med. 2024 Sep 19;391(11):1002-1014. doi: 10.1056/NEJMoa2401537. N Engl J Med. 2024. PMID: 39292927 Clinical Trial.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: porta f. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC. Albert MH, et al. Among authors: porta f. Blood. 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. Blood. 2022. PMID: 35100336 Free article.
Tumor microenvironment-induced FOXM1 regulates ovarian cancer stemness.
Battistini C, Kenny HA, Zambuto M, Nieddu V, Melocchi V, Decio A, Lo Riso P, Villa CE, Gatto A, Ghioni M, Porta FM, Testa G, Giavazzi R, Colombo N, Bianchi F, Lengyel E, Cavallaro U. Battistini C, et al. Among authors: porta fm. Cell Death Dis. 2024 May 28;15(5):370. doi: 10.1038/s41419-024-06767-7. Cell Death Dis. 2024. PMID: 38806454 Free PMC article.
Genealogy of breastfeeding.
Porta F, Mussa A, Baldassarre G, Perduca V, Farina D, Spada M, Ponzone A. Porta F, et al. Eur J Pediatr. 2016 Jan;175(1):105-12. doi: 10.1007/s00431-015-2605-6. Epub 2015 Aug 13. Eur J Pediatr. 2016. PMID: 26264144
522 results