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

Year Number of Results
2002 4
2004 10
2005 7
2006 10
2007 12
2008 12
2009 9
2010 20
2011 16
2012 13
2013 8
2014 20
2015 17
2016 16
2017 17
2018 15
2019 9
2020 23
2021 21
2022 31
2023 33
2024 12

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296 results

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Page 1
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M. van Trotsenburg P, et al. Among authors: polak m. Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. Thyroid. 2021. PMID: 33272083 Free PMC article. Review.
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network; Boileau C, Varret M, Rabès JP. Marduel M, et al. Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348. Hum Mutat. 2010. PMID: 20809525 Free PMC article.
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim LL, Männistö JME, Massey R, Mclennan NM, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL Jr, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar … See abstract for full author list ➔ Tobias DK, et al. Among authors: polak m. Nat Med. 2023 Oct;29(10):2438-2457. doi: 10.1038/s41591-023-02502-5. Epub 2023 Oct 5. Nat Med. 2023. PMID: 37794253 Free PMC article. Review.
Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort.
Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibáñez L, Carlsson M, Cutfield W, Rooman R, Gomez R, Wajnrajch MP, Linglart A, Stawerska R, Clayton PE, Darendeliler F, Hokken-Koelega ACS, Horikawa R, Tanaka T, Dörr HG, Albertsson-Wikland K, Polak M, Grimberg A. Maghnie M, et al. Among authors: polak m. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3287-3301. doi: 10.1210/clinem/dgac517. J Clin Endocrinol Metab. 2022. PMID: 36102184 Free PMC article.
Développement des médicaments en pédiatrie : défis existants et recommandations.
Kaguelidou F, Ouèdraogo M, Treluyer JM, Le Jeunne C, Annereau M, Blanc P, Bureau S, Ducassou S, Fiquet B, Flamein F, Gaillard S, Hankard R, Laugel V, Laurent C, Levy C, Marquet T, Polak M, Portefaix A, Vassal G. Kaguelidou F, et al. Among authors: polak m. Therapie. 2023 Jan-Feb;78(1):95-104. doi: 10.1016/j.therap.2022.12.002. Epub 2022 Dec 5. Therapie. 2023. PMID: 36543724 French. No abstract available.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement.
Boguszewski MCS, Boguszewski CL, Chemaitilly W, Cohen LE, Gebauer J, Higham C, Hoffman AR, Polak M, Yuen KCJ, Alos N, Antal Z, Bidlingmaier M, Biller BMK, Brabant G, Choong CSY, Cianfarani S, Clayton PE, Coutant R, Cardoso-Demartini AA, Fernandez A, Grimberg A, Guðmundsson K, Guevara-Aguirre J, Ho KKY, Horikawa R, Isidori AM, Jørgensen JOL, Kamenicky P, Karavitaki N, Kopchick JJ, Lodish M, Luo X, McCormack AI, Meacham L, Melmed S, Mostoufi Moab S, Müller HL, Neggers SJCMM, Aguiar Oliveira MH, Ozono K, Pennisi PA, Popovic V, Radovick S, Savendahl L, Touraine P, van Santen HM, Johannsson G. Boguszewski MCS, et al. Among authors: polak m. Eur J Endocrinol. 2022 Apr 21;186(6):P35-P52. doi: 10.1530/EJE-21-1186. Eur J Endocrinol. 2022. PMID: 35319491 Free PMC article. Review.
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: polak m. 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.
296 results