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

Year Number of Results
1945 1
1946 2
1947 9
1948 4
1949 7
1950 4
1951 3
1952 6
1953 4
1954 6
1955 4
1956 9
1957 4
1958 6
1959 10
1960 4
1961 4
1962 11
1963 10
1964 6
1965 17
1966 12
1967 9
1968 8
1969 7
1970 15
1971 16
1972 15
1973 32
1974 38
1975 30
1976 38
1977 42
1978 36
1979 32
1980 33
1981 37
1982 25
1983 38
1984 38
1985 32
1986 41
1987 60
1988 47
1989 49
1990 27
1991 32
1992 45
1993 39
1994 41
1995 40
1996 37
1997 27
1998 36
1999 46
2000 45
2001 43
2002 50
2003 50
2004 33
2005 38
2006 47
2007 35
2008 43
2009 41
2010 38
2011 37
2012 47
2013 37
2014 39
2015 44
2016 49
2017 53
2018 60
2019 54
2020 55
2021 64
2022 49
2023 57
2024 57

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2,284 results

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Page 1
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: brunner hg. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Secukinumab in enthesitis-related arthritis and juvenile psoriatic arthritis: a randomised, double-blind, placebo-controlled, treatment withdrawal, phase 3 trial.
Brunner HI, Foeldvari I, Alexeeva E, Ayaz NA, Calvo Penades I, Kasapcopur O, Chasnyk VG, Hufnagel M, Żuber Z, Schulert G, Ozen S, Rakhimyanova A, Ramanan A, Scott C, Sozeri B, Zholobova E, Martin R, Zhu X, Whelan S, Pricop L, Martini A, Lovell D, Ruperto N; Paediatric Rheumatology INternational Trials Organization (PRINTO) and Pediatric Rheumatology Collaborative Study Group (PRCSG). Brunner HI, et al. Ann Rheum Dis. 2023 Jan;82(1):154-160. doi: 10.1136/ard-2022-222849. Epub 2022 Aug 12. Ann Rheum Dis. 2023. PMID: 35961761 Free PMC article. Clinical Trial.
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. de Ligt J, et al. Among authors: brunner hg. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3. N Engl J Med. 2012. PMID: 23033978 Free article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G… See abstract for full author list ➔ Rots D, et al. Among authors: brunner hg. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: brunner hg. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Among authors: brunner hg. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
Preclinical characterization of the Toll-like receptor 7/8 antagonist MHV370 for lupus therapy.
Hawtin S, André C, Collignon-Zipfel G, Appenzeller S, Bannert B, Baumgartner L, Beck D, Betschart C, Boulay T, Brunner HI, Ceci M, Deane J, Feifel R, Ferrero E, Kyburz D, Lafossas F, Loetscher P, Merz-Stoeckle C, Michellys P, Nuesslein-Hildesheim B, Raulf F, Rush JS, Ruzzante G, Stein T, Zaharevitz S, Wieczorek G, Siegel R, Gergely P, Shisha T, Junt T. Hawtin S, et al. Among authors: brunner hi. Cell Rep Med. 2023 May 16;4(5):101036. doi: 10.1016/j.xcrm.2023.101036. Cell Rep Med. 2023. PMID: 37196635 Free PMC article.
Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial.
Ramanan AV, Quartier P, Okamoto N, Foeldvari I, Spindler A, Fingerhutová Š, Antón J, Wang Z, Meszaros G, Araújo J, Liao R, Keller S, Brunner HI, Ruperto N; JUVE-BASIS investigators; Paediatric Rheumatology International Trials Organisation. Ramanan AV, et al. Among authors: brunner hi. Lancet. 2023 Aug 12;402(10401):555-570. doi: 10.1016/S0140-6736(23)00921-2. Epub 2023 Jul 6. Lancet. 2023. PMID: 37423231 Free article. Clinical Trial.
Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Gilissen C, et al. Among authors: brunner hg. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4. Nature. 2014. PMID: 24896178 Free article.
2,284 results