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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 15
2009 19
2010 21
2011 21
2012 31
2013 21
2014 19
2015 19
2016 13
2017 19
2018 15
2019 18
2020 27
2021 9
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Search Results

398 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.
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.
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.
Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP. Ferrua F, et al. Among authors: porta f. J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17. J Allergy Clin Immunol. 2019. PMID: 30660643 Free article.
Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.
Chiesa R, Wang J, Blok HJ, Hazelaar S, Neven B, Moshous D, Schulz A, Hoenig M, Hauck F, Al Seraihy A, Gozdzik J, Ljungman P, Lindemans CA, Fernandes JF, Kalwak K, Strahm B, Schanz U, Sedlacek P, Sykora KW, Aksoylar S, Locatelli F, Stepensky P, Wynn R, Lum SH, Zecca M, Porta F, Taskinen M, Gibson B, Matthes S, Karakukcu M, Hauri-Hohl M, Veys P, Gennery AR, Lucchini G, Felber M, Albert MH, Balashov D, Lankester A, Güngör T, Slatter MA. Chiesa R, et al. Among authors: porta f. Blood. 2020 Sep 3;136(10):1201-1211. doi: 10.1182/blood.2020005590. Blood. 2020. PMID: 32614953
Hematopoietic stem cell transplantation for isolated extramedullary relapse of acute lymphoblastic leukemia in children.
Gabelli M, Zecca M, Messina C, Carraro E, Buldini B, Rovelli AM, Fagioli F, Bertaina A, Lanino E, Favre C, Rabusin M, Prete A, Ripaldi M, Barberi W, Porta F, Caniglia M, Santarone S, D'Angelo P, Basso G, Locatelli F. Gabelli M, et al. Among authors: porta f. Bone Marrow Transplant. 2019 Feb;54(2):275-283. doi: 10.1038/s41409-018-0259-5. Epub 2018 Jun 13. Bone Marrow Transplant. 2019. PMID: 29899572 Free article.
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 article.
Haploidentical transplantation and posttransplant cyclophosphamide for treating aplastic anemia patients: a report from the EBMT Severe Aplastic Anemia Working Party.
Prata PH, Eikema DJ, Afansyev B, Bosman P, Smiers F, Diez-Martin JL, Arrais-Rodrigues C, Koc Y, Poiré X, Sirvent A, Kröger N, Porta F, Holter W, Bloor A, Jubert C, Ganser A, Tanase A, Ménard AL, Pioltelli P, Pérez-Simón JA, Ho A, Aljurf M, Russell N, Labussiere-Wallet H, Kerre T, Rocha V, Socié G, Risitano A, Dufour C, Peffault de Latour R; SAA WP of the EBMT. Prata PH, et al. Among authors: porta f. Bone Marrow Transplant. 2020 Jun;55(6):1050-1058. doi: 10.1038/s41409-019-0773-0. Epub 2019 Dec 16. Bone Marrow Transplant. 2020. PMID: 31844137
Children with cancer in the time of COVID-19: An 8-week report from the six pediatric onco-hematology centers in Lombardia, Italy.
Ferrari A, Zecca M, Rizzari C, Porta F, Provenzi M, Marinoni M, Schumacher RF, Luksch R, Terenziani M, Casanova M, Spreafico F, Chiaravalli S, Compagno F, Bruni F, Piccolo C, Bettini L, D'Angiò M, Ferrari GM, Biondi A, Massimino M, Balduzzi A. Ferrari A, et al. Among authors: porta f. Pediatr Blood Cancer. 2020 Aug;67(8):e28410. doi: 10.1002/pbc.28410. Epub 2020 May 26. Pediatr Blood Cancer. 2020. PMID: 32452123 Free PMC article. No abstract available.
Large and Small Cerebral Vessel Involvement in Severe COVID-19: Detailed Clinical Workup of a Case Series.
Keller E, Brandi G, Winklhofer S, Imbach LL, Kirschenbaum D, Frontzek K, Steiger P, Dietler S, Haeberlin M, Willms J, Porta F, Waeckerlin A, Huber M, Abela IA, Lutterotti A, Stippich C, Globas C, Varga Z, Jelcic I. Keller E, et al. Among authors: porta f. Stroke. 2020 Dec;51(12):3719-3722. doi: 10.1161/STROKEAHA.120.031224. Epub 2020 Oct 15. Stroke. 2020. PMID: 33054673 Free PMC article.
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