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Page 1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: wong sn. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: wong sn. J Inherit Metab Dis. 2024 Mar 18. doi: 10.1002/jimd.12723. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38499966
In vitro modeling of the human dopaminergic system using spatially arranged ventral midbrain-striatum-cortex assembloids.
Reumann D, Krauditsch C, Novatchkova M, Sozzi E, Wong SN, Zabolocki M, Priouret M, Doleschall B, Ritzau-Reid KI, Piber M, Morassut I, Fieseler C, Fiorenzano A, Stevens MM, Zimmer M, Bardy C, Parmar M, Knoblich JA. Reumann D, et al. Among authors: wong sn. Nat Methods. 2023 Dec;20(12):2034-2047. doi: 10.1038/s41592-023-02080-x. Epub 2023 Dec 5. Nat Methods. 2023. PMID: 38052989 Free PMC article.
Inter-colony variation in predation, mercury burden and adult survival in a declining seabird.
Calvert AM, Gutowsky SE, Fifield DA, Burgess NM, Bryant R, Fraser GS, Gjerdrum C, Hedd A, Jones PL, Mauck RA, McFarlane Tranquilla L, Montevecchi WA, Pollet IL, Ronconi RA, Rock JC, Russell J, Wilhelm SI, Wong SNP, Robertson GJ. Calvert AM, et al. Among authors: wong snp. Sci Total Environ. 2024 Feb 10;911:168549. doi: 10.1016/j.scitotenv.2023.168549. Epub 2023 Nov 17. Sci Total Environ. 2024. PMID: 37981162 Free article.
International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors.
Kuan EC, Wang EW, Adappa ND, Beswick DM, London NR Jr, Su SY, Wang MB, Abuzeid WM, Alexiev B, Alt JA, Antognoni P, Alonso-Basanta M, Batra PS, Bhayani M, Bell D, Bernal-Sprekelsen M, Betz CS, Blay JY, Bleier BS, Bonilla-Velez J, Callejas C, Carrau RL, Casiano RR, Castelnuovo P, Chandra RK, Chatzinakis V, Chen SB, Chiu AG, Choby G, Chowdhury NI, Citardi MJ, Cohen MA, Dagan R, Dalfino G, Dallan I, Dassi CS, de Almeida J, Dei Tos AP, DelGaudio JM, Ebert CS, El-Sayed IH, Eloy JA, Evans JJ, Fang CH, Farrell NF, Ferrari M, Fischbein N, Folbe A, Fokkens WJ, Fox MG, Lund VJ, Gallia GL, Gardner PA, Geltzeiler M, Georgalas C, Getz AE, Govindaraj S, Gray ST, Grayson JW, Gross BA, Grube JG, Guo R, Ha PK, Halderman AA, Hanna EY, Harvey RJ, Hernandez SC, Holtzman AL, Hopkins C, Huang Z, Huang Z, Humphreys IM, Hwang PH, Iloreta AM, Ishii M, Ivan ME, Jafari A, Kennedy DW, Khan M, Kimple AJ, Kingdom TT, Knisely A, Kuo YJ, Lal D, Lamarre ED, Lan MY, Le H, Lechner M, Lee NY, Lee JK, Lee VH, Levine CG, Lin JC, Lin DT, Lobo BC, Locke T, Luong AU, Magliocca KR, Markovic SN, Matnjani G, McKean EL, Meço C, Mendenhall WM, Michel L, Na'ara S, Nicolai P, Nuss DW, Nyquist GG, Oakley GM, Omura K, Orlandi RR, … See abstract for full author list ➔ Kuan EC, et al. Among authors: wong sn. Int Forum Allergy Rhinol. 2024 Feb;14(2):149-608. doi: 10.1002/alr.23262. Epub 2024 Jan 2. Int Forum Allergy Rhinol. 2024. PMID: 37658764 Review.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: wong sn. J Inherit Metab Dis. 2023 Jul 15. doi: 10.1002/jimd.12658. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37452721
179 results