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

Year Number of Results
1950 1
1951 3
1952 1
1953 3
1954 6
1955 1
1956 2
1957 6
1958 2
1959 1
1960 5
1961 4
1962 4
1963 1
1964 5
1965 5
1966 2
1967 4
1968 1
1969 2
1970 4
1971 3
1972 3
1973 5
1974 2
1975 5
1977 2
1978 3
1979 3
1980 1
1981 4
1982 7
1983 3
1984 3
1985 2
1986 2
1987 1
1988 5
1989 7
1990 4
1991 2
1992 8
1993 5
1994 6
1995 9
1996 6
1997 7
1998 8
1999 6
2000 11
2001 10
2002 9
2003 10
2004 9
2005 9
2006 8
2007 8
2008 8
2009 12
2010 9
2011 7
2012 2
2013 11
2014 12
2015 15
2016 16
2017 14
2018 12
2019 12
2020 9
2021 9
2022 8
2023 8
2024 10
2025 1

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407 results

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Page 1
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. Among authors: mandel h. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
Characterizing Long COVID in Children and Adolescents.
Gross RS, Thaweethai T, Kleinman LC, Snowden JN, Rosenzweig EB, Milner JD, Tantisira KG, Rhee KE, Jernigan TL, Kinser PA, Salisbury AL, Warburton D, Mohandas S, Wood JC, Newburger JW, Truong DT, Flaherman VJ, Metz TD, Karlson EW, Chibnik LB, Pant DB, Krishnamoorthy A, Gallagher R, Lamendola-Essel MF, Hasson DC, Katz SD, Yin S, Dreyer BP, Carmilani M, Coombs K, Fitzgerald ML, Güthe N, Hornig M, Letts RJ, Peddie AK, Taylor BD, Balaraman V, Bogie A, Bukulmez H, Dozor AJ, Eckrich D, Elliott AJ, Evans DN, Farkas JS, Faustino EVS, Fischer L, Gaur S, Harahsheh AS, Hasan UN, Hsia DS, Huerta-Montañez G, Hummel KD, Kadish MP, Kaelber DC, Krishnan S, Kosut JS, Larrabee J, Lim PPC, Michelow IC, Oliveira CR, Raissy H, Rosario-Pabon Z, Ross JL, Sato AI, Stevenson MD, Talavera-Barber MM, Teufel RJ, Weakley KE, Zimmerman E, Bind MC, Chan J, Guan Z, Morse RE, Reeder HT, Akshoomoff N, Aschner JL, Bhattacharjee R, Cottrell LA, Cowan K, D'Sa VA, Fiks AG, Gennaro ML, Irby K, Khare M, Guttierrez JL, McCulloh RJ, Narang S, Ness-Cochinwala M, Nolan S, Palumbo P, Ryu J, Salazar JC, Selvarangan R, Stein CR, Werzberger A, Zempsky WT, Aupperle R, Baker FC, Banich MT, Barch DM, Baskin-Sommers A, Bjork JM, Boo… See abstract for full author list ➔ Gross RS, et al. JAMA. 2024 Aug 21;332(14):1174-88. doi: 10.1001/jama.2024.12747. Online ahead of print. JAMA. 2024. PMID: 39196964
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: mandel h. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Among authors: mandel h. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioğlu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H. Lenz D, et al. Among authors: mandel h. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
Measurement of circulating viral antigens post-SARS-CoV-2 infection in a multicohort study.
Swank Z, Borberg E, Chen Y, Senussi Y, Chalise S, Manickas-Hill Z, Yu XG, Li JZ, Alter G, Henrich TJ, Kelly JD, Hoh R, Goldberg SA, Deeks SG, Martin JN, Peluso MJ, Talla A, Li X, Skene P, Bumol TF, Torgerson TR, Czartoski JL, McElrath MJ, Karlson EW, Walt DR; RECOVER consortium authors. Swank Z, et al. Clin Microbiol Infect. 2024 Dec;30(12):1599-1605. doi: 10.1016/j.cmi.2024.09.001. Epub 2024 Oct 9. Clin Microbiol Infect. 2024. PMID: 39389851
Peroxisome mosaics.
Roels F, Saudubray JM, Giros M, Mandel H, Eyskens F, Saracibar N, Atares Pueyo B, Prats JM, De Prest B, De Preter K, Pineda M, Krystkowiak P, Gootjes J, Wanders RJ, Espeel M, Poll-The BT. Roels F, et al. Among authors: mandel h. Adv Exp Med Biol. 2003;544:97-106. doi: 10.1007/978-1-4419-9072-3_14. Adv Exp Med Biol. 2003. PMID: 14713220 No abstract available.
Maintenance of certification.
Mandel HC. Mandel HC. N Engl J Med. 2013 Mar 28;368(13):1262. doi: 10.1056/NEJMc1301026. N Engl J Med. 2013. PMID: 23534580 No abstract available.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR. Patterson K, et al. Among authors: mandel h. Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14. Am J Ophthalmol. 2024. PMID: 37972748 Free article.
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: mandel h. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
407 results