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

Year Number of Results
1993 1
1994 3
1995 4
1996 1
1997 2
1998 4
1999 8
2000 7
2001 9
2002 10
2003 16
2004 11
2005 12
2006 8
2007 11
2008 9
2009 14
2010 14
2011 11
2012 27
2013 18
2014 15
2015 21
2016 19
2017 16
2018 16
2019 18
2020 21
2021 19
2022 22
2023 5
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Search Results

323 results
Results by year
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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: zschocke j. 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.
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: zschocke j. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
Guidelines for the use and interpretation of assays for monitoring autophagy.
Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC Jr, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pier… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: zschocke j. Autophagy. 2012 Apr;8(4):445-544. doi: 10.4161/auto.19496. Autophagy. 2012. PMID: 22966490 Free PMC article.
Periodontal Ehlers-Danlos Syndrome.
Kapferer-Seebacher I, van Dijk FS, Zschocke J. Kapferer-Seebacher I, et al. Among authors: zschocke j. 2021 Jul 29. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2021 Jul 29. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 34324282 Free Books & Documents. Review.
Response.
Vogi V, Denicolò S, Mayer G, Zschocke J, Jukic E. Vogi V, et al. Among authors: zschocke j. Kidney Int Rep. 2022 Aug 27;7(11):2543-2544. doi: 10.1016/j.ekir.2022.08.015. eCollection 2022 Nov. Kidney Int Rep. 2022. PMID: 36531870 Free PMC article. No abstract available.
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: zschocke j. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM. Kapferer-Seebacher I, et al. Among authors: zschocke j. Acta Derm Venereol. 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. Acta Derm Venereol. 2020. PMID: 32147746 Free PMC article.
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.
Talarico R, Aguilera S, Alexander T, Amoura Z, Andersen J, Arnaud L, Avcin T, Marsal Barril S, Beretta L, Bombardieri S, Bortoluzzi A, Bouillot C, Bulina I, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Corti P, Costedoat-Chalumeau N, Dāvidsone Z, Doria A, Fenech C, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Guimarães V, Hachulla E, Holmner M, Houssiau F, Iaccarino L, Jacobsen S, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Milas-Ahić J, Moinzadeh P, Montecucco C, Mouthon L, Müller-Ladner U, Nagy G, Patarata E, Pileckyte M, Pruunsild C, Rednic S, Romão VC, Schneider M, Scirè CA, Smith V, Sulli A, Tamirou F, Tani C, Taruscio D, Taulaigo AV, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Viera A, de Vries-Bouwstra JK, Zschocke J, Cutolo M, Mosca M. Talarico R, et al. Among authors: zschocke j. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):3-11. doi: 10.55563/clinexprheumatol/d2qz38. Epub 2022 Mar 29. Clin Exp Rheumatol. 2022. PMID: 35349419 Free article. Review.
323 results