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Page 1
Showing results for moortgat s
Search for Moorgas S instead (1 results)
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M. Al-Kateb H, et al. Among authors: moortgat s. Clin Genet. 2024 Mar;105(3):294-301. doi: 10.1111/cge.14464. Epub 2023 Dec 3. Clin Genet. 2024. PMID: 38044714
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: moortgat s. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Observation of the B_{s}^{0}→X(3872)ϕ Decay.
Sirunyan AM, Tumasyan A, Adam W, Ambrogi F, Bergauer T, Dragicevic M, Erö J, Escalante Del Valle A, Frühwirth R, Jeitler M, Krammer N, Lechner L, Liko D, Madlener T, Mikulec I, Pitters FM, Rad N, Schieck J, Schöfbeck R, Spanring M, Templ S, Waltenberger W, Wulz CE, Zarucki M, Chekhovsky V, Litomin A, Makarenko V, Suarez Gonzalez J, Darwish MR, De Wolf EA, Di Croce D, Janssen X, Kello T, Lelek A, Pieters M, Rejeb Sfar H, Van Haevermaet H, Van Mechelen P, Van Putte S, Van Remortel N, Blekman F, Bols ES, Chhibra SS, D'Hondt J, De Clercq J, Lontkovskyi D, Lowette S, Marchesini I, Moortgat S, Morton A, Python Q, Tavernier S, Van Doninck W, Van Mulders P, Beghin D, Bilin B, Clerbaux B, De Lentdecker G, Delannoy H, Dorney B, Favart L, Grebenyuk A, Kalsi AK, Makarenko I, Moureaux L, Pétré L, Popov A, Postiau N, Starling E, Thomas L, Vander Velde C, Vanlaer P, Vannerom D, Wezenbeek L, Cornelis T, Dobur D, Gruchala M, Khvastunov I, Niedziela M, Roskas C, Skovpen K, Tytgat M, Verbeke W, Vermassen B, Vit M, Bruno G, Bury F, Caputo C, David P, Delaere C, Delcourt M, Donertas IS, Giammanco A, Lemaitre V, Mondal K, Prisciandaro J, Taliercio A, Teklishyn M, Vischia P, Wuyckens S, Zobec J, … See abstract for full author list ➔ Sirunyan AM, et al. Among authors: moortgat s. Phys Rev Lett. 2020 Oct 9;125(15):152001. doi: 10.1103/PhysRevLett.125.152001. Phys Rev Lett. 2020. PMID: 33095627 Free article.
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Contrò G, Baroni MC, Caraffi SG, Napoli M, Artuso R, Giliberti A, Bargiacchi S, Mancano G, Traficante G, Mucciolo M, Radio FC, Cordeddu V, Mancini C, Bottillo I, Pirro FA, Bonati MT, Becker CC, Carli D, Mussa A, Gonzalez MIA, Ruiz-Arana IL, Kumps C, Maystadt I, Moortgat S, Peker A, Piccione M, Grammatico P, Rostomashvili N, Lévy J, Scala M, Capra V, Torella A, van Eyk C, Isidor B, Cogne B, Srivastava S, Quinlan A, Vaisfeld A, Licchetta L, Frattini D, Graziano C, Severi G, Bacchi I, Soliani L, Sherr EH, Argilli E, Goel H, De Luca C, Leonardi S, Brancati F, Faletra F, Mio C, Braibanti S, Gargano G, Fusco C, Novelli A, Tartaglia M, Garavelli L. Contrò G, et al. Among authors: moortgat s. Clin Genet. 2025 Aug;108(2):146-155. doi: 10.1111/cge.14726. Epub 2025 Feb 19. Clin Genet. 2025. PMID: 39971730 Free PMC article.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: moortgat s. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK. Rossi A, et al. Among authors: moortgat s. Neurology. 2025 Jul 22;105(2):e213644. doi: 10.1212/WNL.0000000000213644. Epub 2025 Jun 26. Neurology. 2025. PMID: 40570274 Free PMC article.
Neurological outcome in WDR62 primary microcephaly.
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Ruaud L, et al. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Dev Med Child Neurol. 2022. PMID: 35726608 Free article.
Evidence for X(3872) in Pb-Pb Collisions and Studies of its Prompt Production at sqrt[s_{NN}]=5.02  TeV.
Sirunyan AM, Tumasyan A, Adam W, Ambrogi F, Bergauer T, Dragicevic M, Erö J, Escalante Del Valle A, Flechl M, Frühwirth R, Jeitler M, Krammer N, Krätschmer I, Liko D, Madlener T, Mikulec I, Rad N, Schieck J, Schöfbeck R, Spanring M, Waltenberger W, Wulz CE, Zarucki M, Drugakov V, Mossolov V, Suarez Gonzalez J, Darwish MR, De Wolf EA, Di Croce D, Janssen X, Kello T, Lelek A, Pieters M, Rejeb Sfar H, Van Haevermaet H, Van Mechelen P, Van Putte S, Van Remortel N, Blekman F, Bols ES, Chhibra SS, D'Hondt J, De Clercq J, Lontkovskyi D, Lowette S, Marchesini I, Moortgat S, Python Q, Tavernier S, Van Doninck W, Van Mulders P, Beghin D, Bilin B, Clerbaux B, De Lentdecker G, Delannoy H, Dorney B, Favart L, Grebenyuk A, Kalsi AK, Moureaux L, Popov A, Postiau N, Starling E, Thomas L, Vander Velde C, Vanlaer P, Vannerom D, Cornelis T, Dobur D, Khvastunov I, Niedziela M, Roskas C, Skovpen K, Tytgat M, Verbeke W, Vermassen B, Vit M, Bruno G, Caputo C, David P, Delaere C, Delcourt M, Giammanco A, Lemaitre V, Prisciandaro J, Saggio A, Vischia P, Zobec J, Alves GA, Correia Silva G, Hensel C, Moraes A, Belchior Batista Das Chagas E, Carvalho W, Chinellato J, Coelho E, Da Costa EM, Da Silveira… See abstract for full author list ➔ Sirunyan AM, et al. Among authors: moortgat s. Phys Rev Lett. 2022 Jan 21;128(3):032001. doi: 10.1103/PhysRevLett.128.032001. Phys Rev Lett. 2022. PMID: 35119878 Free article.
198 results