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Year Number of Results
1985 1
1986 2
1987 4
1988 4
1989 1
1990 6
1991 4
1992 1
1993 1
1994 4
1995 5
1996 1
1997 2
1998 2
1999 4
2000 3
2001 8
2002 4
2003 5
2004 6
2005 7
2006 11
2007 9
2008 7
2009 4
2010 7
2011 12
2012 4
2013 12
2014 10
2015 10
2016 8
2017 13
2018 6
2019 6
2020 6
2021 11
2022 16
2023 10
2024 9

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212 results

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Page 1
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna JM, Jaffré F, Hoffmann HH, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias AA, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus AL, Rosain J, Peel J, Chan YH, Morin MP, Pino-Ramirez RM, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego ML, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss SR, Bonnet D, Duval X; CoV-Contact Cohort§; COVID Human Genetic Effort¶; Pan-Hammarström Q, Planas AM, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard CL, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, Perez de Diego R, Rodriguez-Gallego C, Su HC, Lifton RP, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice CM, Silverman RH, Zhang SY, Casanova JL. Lee D, et al. Science. 2023 Feb 10;379(6632):eabo3627. doi: 10.1126/science.abo3627. Epub 2023 Feb 10. Science. 2023. PMID: 36538032 Free PMC 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: lebl j. 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.
Treatment Burden of Weekly Somatrogon vs Daily Somatropin in Children With Growth Hormone Deficiency: A Randomized Study.
Maniatis AK, Carakushansky M, Galcheva S, Prakasam G, Fox LA, Dankovcikova A, Loftus J, Palladino AA, de Los Angeles Resa M, Turich Taylor C, Dattani MT, Lebl J. Maniatis AK, et al. Among authors: lebl j. J Endocr Soc. 2022 Sep 10;6(10):bvac117. doi: 10.1210/jendso/bvac117. eCollection 2022 Oct 1. J Endocr Soc. 2022. PMID: 36101713 Free PMC article.
Ordinary differential equations.
Lebl J. Lebl J. Methods Mol Biol. 2013;930:475-98. doi: 10.1007/978-1-62703-059-5_20. Methods Mol Biol. 2013. PMID: 23086854 Review.
Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
Gregorova K, Plachy L, Dusatkova P, Maratova K, Neuman V, Kolouskova S, Snajderova M, Obermannova B, Drnkova L, Soucek O, Lebl J, Sumnik Z, Pruhova S. Gregorova K, et al. Among authors: lebl j. J Clin Endocrinol Metab. 2024 Oct 15;109(11):e2009-e2015. doi: 10.1210/clinem/dgae067. J Clin Endocrinol Metab. 2024. PMID: 38307035
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J. Kanderova V, et al. Among authors: lebl j. J Allergy Clin Immunol. 2022 Apr;149(4):1464-1472.e3. doi: 10.1016/j.jaci.2021.07.046. Epub 2021 Sep 15. J Allergy Clin Immunol. 2022. PMID: 34536415
Tumor risk in disorders of sex development.
Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, Cools M, Wolffenbuttel KP, Lebl J, Drop SL, Looijenga LH. Pleskacova J, et al. Among authors: lebl j. Sex Dev. 2010 Sep;4(4-5):259-69. doi: 10.1159/000314536. Epub 2010 Jun 17. Sex Dev. 2010. PMID: 20558977 Review.
Choledochal Cyst with 17q12 Chromosomal Duplication.
Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S. Kotalova R, et al. Among authors: lebl j. Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22. Ann Hum Genet. 2018. PMID: 28940454
212 results