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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16.
Mol Psychiatry. 2023.
PMID: 36385166
Free PMC article.
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter MS, Zech M, Hempel M, Altmüller J, Heung T, Pölsler L, Santer R, Thiele H, Trost B, Kubisch C, Scherer SW, Rudnik-Schöneborn S, Bassett AS, Lessel D.
Reuter MS, et al. Among authors: polsler l.
Eur J Hum Genet. 2022 May;30(5):611-618. doi: 10.1038/s41431-022-01077-y. Epub 2022 Mar 18.
Eur J Hum Genet. 2022.
PMID: 35304602
Free PMC article.
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PEDIA: prioritization of exome data by image analysis.
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, Đukić D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, Köhler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, Nöthen M, Orrico A, Ott CE, Park K, Peterlin B, Pölsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk EK, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wiśniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.
Hsieh TC, et al. Among authors: polsler l.
Genet Med. 2019 Dec;21(12):2807-2814. doi: 10.1038/s41436-019-0566-2. Epub 2019 Jun 5.
Genet Med. 2019.
PMID: 31164752
Free PMC article.
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Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman…
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Zech M, et al. Among authors: polsler l.
Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4.
Lancet Neurol. 2020.
PMID: 33098801
Free PMC article.
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A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements.
Van Der Kelen A, Keymolen K, Cools W, De Vos A, Pölsler L, De Vos M, Blockeel C, Fernandez-Gallardo E, De Rycke M, Berckmoes V, Verdyck P, Hes FJ, Verpoest W.
Van Der Kelen A, et al. Among authors: polsler l.
J Assist Reprod Genet. 2024 May 16. doi: 10.1007/s10815-024-03141-6. Online ahead of print.
J Assist Reprod Genet. 2024.
PMID: 38753088
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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Pölsler L, Schatz UA, Simma B, Zschocke J, Rudnik-Schöneborn S.
Pölsler L, et al.
Am J Med Genet A. 2020 Apr;182(4):730-734. doi: 10.1002/ajmg.a.61478. Epub 2020 Jan 8.
Am J Med Genet A. 2020.
PMID: 31913554
Free PMC article.
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Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.
Maass PG, Weise A, Rittscher K, Lichtenwald J, Barutcu AR, Liehr T, Aydin A, Wefeld-Neuenfeld Y, Pölsler L, Tinschert S, Rinn JL, Luft FC, Bähring S.
Maass PG, et al. Among authors: polsler l.
EMBO J. 2018 Aug 1;37(15):e96257. doi: 10.15252/embj.201696257. Epub 2018 Jun 19.
EMBO J. 2018.
PMID: 29921581
Free PMC article.
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High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
Pölsler L, Fiegl H, Wimmer K, Oberaigner W, Amberger A, Traunfellner P, Morscher RJ, Weber I, Fauth C, Wernstedt A, Sperner-Unterweger B, Oberguggenberger A, Hubalek M, Marth C, Zschocke J.
Pölsler L, et al.
Eur J Hum Genet. 2016 Feb;24(2):258-62. doi: 10.1038/ejhg.2015.108. Epub 2015 May 27.
Eur J Hum Genet. 2016.
PMID: 26014432
Free PMC article.
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