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Items: 1 to 50 of 750

1.

Impact of Statewide Telestroke Network on Acute Stroke Treatment in Hawai'i.

Chaffin HM, Nakagawa K, Koenig MA.

Hawaii J Health Soc Welf. 2019 Sep;78(9):280-286.

2.

Collisionless Shocks Driven by Supersonic Plasma Flows with Self-Generated Magnetic Fields.

Li CK, Tikhonchuk VT, Moreno Q, Sio H, D'Humières E, Ribeyre X, Korneev P, Atzeni S, Betti R, Birkel A, Campbell EM, Follett RK, Frenje JA, Hu SX, Koenig M, Sakawa Y, Sangster TC, Seguin FH, Takabe H, Zhang S, Petrasso RD.

Phys Rev Lett. 2019 Aug 2;123(5):055002. doi: 10.1103/PhysRevLett.123.055002.

PMID:
31491329
3.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
4.

Identification of Recurrent Activating HER2 Mutations in Primary Canine Pulmonary Adenocarcinoma.

Lorch G, Sivaprakasam K, Zismann V, Perdigones N, Contente-Cuomo T, Nazareno A, Facista S, Wong S, Drenner K, Liang WS, Amann JM, Sinicropi-Yao SL, Koenig MJ, La Perle K, Whitsett TG, Murtaza M, Trent JM, Carbone DP, Hendricks WPD.

Clin Cancer Res. 2019 Aug 20. doi: 10.1158/1078-0432.CCR-19-1145. [Epub ahead of print]

PMID:
31431454
5.

Primary infection with dengue or Zika virus does not affect the severity of heterologous secondary infection in macaques.

Breitbach ME, Newman CM, Dudley DM, Stewart LM, Aliota MT, Koenig MR, Shepherd PM, Yamamoto K, Crooks CM, Young G, Semler MR, Weiler AM, Barry GL, Heimsath H, Mohr EL, Eichkoff J, Newton W, Peterson E, Schultz-Darken N, Permar SR, Dean H, Capuano S 3rd, Osorio JE, Friedrich TC, O'Connor DH.

PLoS Pathog. 2019 Aug 1;15(8):e1007766. doi: 10.1371/journal.ppat.1007766. eCollection 2019 Aug.

6.

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bézieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, Billette de Villemeur T, Nava C, Héron B, Petrou S, Berkovic SF.

Ann Clin Transl Neurol. 2019 Jul;6(7):1263-1272. doi: 10.1002/acn3.50822. Epub 2019 Jul 1.

7.

Autoantibodies to a novel Rpp38 (Th/To) derived B-cell epitope are specific for systemic sclerosis and associate with a distinct clinical phenotype.

Koenig M, Bentow C, Satoh M, Fritzler MJ, Senécal JL, Mahler M.

Rheumatology (Oxford). 2019 Apr 22. pii: kez123. doi: 10.1093/rheumatology/kez123. [Epub ahead of print]

PMID:
31323671
8.

Brain death.

Koenig MA, Kaplan PW.

Handb Clin Neurol. 2019;161:89-102. doi: 10.1016/B978-0-444-64142-7.00042-4.

PMID:
31307622
9.

Laser-driven shock compression of "synthetic planetary mixtures" of water, ethanol, and ammonia.

Guarguaglini M, Hernandez JA, Okuchi T, Barroso P, Benuzzi-Mounaix A, Bethkenhagen M, Bolis R, Brambrink E, French M, Fujimoto Y, Kodama R, Koenig M, Lefevre F, Miyanishi K, Ozaki N, Redmer R, Sano T, Umeda Y, Vinci T, Ravasio A.

Sci Rep. 2019 Jul 12;9(1):10155. doi: 10.1038/s41598-019-46561-6.

10.

Characterization of high spatial resolution lithium fluoride X-ray detectors.

Mabey P, Albertazzi B, Michel T, Rigon G, Makarov S, Ozaki N, Matsuoka T, Pikuz S, Pikuz T, Koenig M.

Rev Sci Instrum. 2019 Jun;90(6):063702. doi: 10.1063/1.5092265.

PMID:
31255030
11.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
12.

Laboratory study of stationary accretion shock relevant to astrophysical systems.

Mabey P, Albertazzi B, Falize E, Michel T, Rigon G, Van Box Som L, Pelka A, Brack FE, Kroll F, Filippov E, Gregori G, Kuramitsu Y, Lamb DQ, Li C, Ozaki N, Pikuz S, Sakawa Y, Tzeferacos P, Koenig M.

Sci Rep. 2019 May 31;9(1):8157. doi: 10.1038/s41598-019-44596-3.

13.

Editorial: Polymer Surface Chemistry: Biomolecular Engineering and Biointerfaces.

Chen HY, Hayashi T, Koenig M, Lai JJ.

Front Chem. 2019 Apr 25;7:271. doi: 10.3389/fchem.2019.00271. eCollection 2019. No abstract available.

14.

Personal recovery of young adults with severe anorexia nervosa during adolescence: a case series.

Piot MA, Gueguen J, Michelet D, Orri M, Köenig M, Corcos M, Cadwallader JS, Godart N.

Eat Weight Disord. 2019 May 16. doi: 10.1007/s40519-019-00696-7. [Epub ahead of print]

PMID:
31098986
15.

Correction to: Determinant roles of dendritic cell-expressed Notch Delta-like and Jagged ligands on anti-tumor T-cell immunity.

Tchekneva EE, Goruganthu MUL, Uzhachenko RV, Thomas PL, Antonucci A, Chekneva I, Koenig M, Piao L, Akhter A, de Aquino MTP, Ranganathan P, Long N, Magliery T, Valujskikh A, Evans JV, Arasada RR, Massion PP, Carbone DP, Shanker A, Dikov MM.

J Immunother Cancer. 2019 May 7;7(1):124. doi: 10.1186/s40425-019-0592-2.

16.

Supersonic plasma turbulence in the laboratory.

White TG, Oliver MT, Mabey P, Kühn-Kauffeldt M, Bott AFA, Döhl LNK, Bell AR, Bingham R, Clarke R, Foster J, Giacinti G, Graham P, Heathcote R, Koenig M, Kuramitsu Y, Lamb DQ, Meinecke J, Michel T, Miniati F, Notley M, Reville B, Ryu D, Sarkar S, Sakawa Y, Selwood MP, Squire J, Scott RHH, Tzeferacos P, Woolsey N, Schekochihin AA, Gregori G.

Nat Commun. 2019 Apr 15;10(1):1758. doi: 10.1038/s41467-019-09498-y.

17.

Where There Is No Law, There Is No Transgression: Goal-Directed Therapy for Traumatic Brain Injury.

Koenig MA.

Crit Care Med. 2019 May;47(5):731-733. doi: 10.1097/CCM.0000000000003703. No abstract available.

PMID:
30985456
18.

Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases.

Kruk SK, Pacheco SE, Koenig MK, Bergerson JRE, Gordon-Lipkin E, McGuire PJ.

J Allergy Clin Immunol Pract. 2019 Sep - Oct;7(7):2415-2418.e3. doi: 10.1016/j.jaip.2019.03.046. Epub 2019 Apr 5. No abstract available.

PMID:
30954647
19.

Determinant roles of dendritic cell-expressed Notch Delta-like and Jagged ligands on anti-tumor T cell immunity.

Tchekneva EE, Goruganthu MUL, Uzhachenko RV, Thomas PL, Antonucci A, Chekneva I, Koenig M, Piao L, Akhter A, de Aquino MTP, Ranganathan P, Long N, Magliery T, Valujskikh A, Evans JV, Arasada RR, Massion PP, Carbone DP, Shanker A, Dikov MM.

J Immunother Cancer. 2019 Apr 2;7(1):95. doi: 10.1186/s40425-019-0566-4. Erratum in: J Immunother Cancer. 2019 May 7;7(1):124.

20.

Autoantibodies to Mi-2 alpha and Mi-2 beta in patients with idiopathic inflammatory myopathy.

Richards M, García-De La Torre I, González-Bello YC, Vázquez-Del Mercado M, Andrade-Ortega L, Medrano-Ramírez G, Navarro-Zarza JE, Maradiaga-Ceceña M, Loyo E, Rojo-Mejía A, Gómez G, Seaman A, Fritzler MJ, Koenig M, Mahler M.

Rheumatology (Oxford). 2019 Sep 1;58(9):1655-1661. doi: 10.1093/rheumatology/kez092.

PMID:
30938432
21.

A Prospective, Randomized Trial for the Comparison of 19-G and 22-G Endobronchial Ultrasound-Guided Transbronchial Aspiration Needles; Introducing a Novel End Point of Sample Weight Corrected for Blood Content.

Wolters C, Darwiche K, Franzen D, Hager T, Bode-Lesnievska B, Kneuertz PJ, He K, Koenig M, Freitag L, Wei L, Eisenmann S, Taube C, Weinreich G, Oezkan F.

Clin Lung Cancer. 2019 May;20(3):e265-e273. doi: 10.1016/j.cllc.2019.02.019. Epub 2019 Mar 4.

PMID:
30914312
22.

cTBS over contralesional homologue areas deteriorates speech output in isolated apraxia of speech after stroke.

Kaufmann BC, Pastore-Wapp M, Lübeck M, Koenig M, Bohlhalter S, Vanbellingen T, Cazzoli D, Nyffeler T.

Brain Stimul. 2019 Jul - Aug;12(4):1069-1071. doi: 10.1016/j.brs.2019.03.024. Epub 2019 Mar 18. No abstract available.

PMID:
30914261
23.

In-situ-Investigation of Enzyme Immobilization on Polymer Brushes.

Koenig M, König U, Eichhorn KJ, Müller M, Stamm M, Uhlmann P.

Front Chem. 2019 Mar 7;7:101. doi: 10.3389/fchem.2019.00101. eCollection 2019.

24.

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS.

Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb.

25.

The Effect of LKB1 Activity on the Sensitivity to PI3K/mTOR Inhibition in Non-Small Cell Lung Cancer.

Shukuya T, Yamada T, Koenig MJ, Xu J, Okimoto T, Li F, Amann JM, Carbone DP.

J Thorac Oncol. 2019 Jun;14(6):1061-1076. doi: 10.1016/j.jtho.2019.02.019. Epub 2019 Feb 27.

PMID:
30825612
26.

Discovery and Optimization of a Series of Sulfonamide Inverse Agonists for the Retinoic Acid Receptor-Related Orphan Receptor-α.

Doebelin C, He Y, Campbell S, Nuhant P, Kumar N, Koenig M, Garcia-Ordonez R, Chang MR, Roush WR, Lin L, Kahn S, Cameron MD, Griffin PR, Solt LA, Kamenecka TM.

Med Chem. 2019;15(6):676-684. doi: 10.2174/1573406415666190222124745.

PMID:
30799793
27.

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y.

PMID:
30783266
28.

Enzyme Immobilization in Polyelectrolyte Brushes: High Loading and Enhanced Activity Compared to Monolayers.

Ferrand-Drake Del Castillo G, Koenig M, Müller M, Eichhorn KJ, Stamm M, Uhlmann P, Dahlin A.

Langmuir. 2019 Mar 5;35(9):3479-3489. doi: 10.1021/acs.langmuir.9b00056. Epub 2019 Feb 21.

PMID:
30742441
29.

CD28H expression identifies resident memory CD8 + T cells with less cytotoxicity in human peripheral tissues and cancers.

Tian Y, Sun Y, Gao F, Koenig MR, Sunderland A, Fujiwara Y, Torphy RJ, Chen L, Edil BH, Schulick RD, Zhu Y.

Oncoimmunology. 2018 Nov 5;8(2):e1538440. doi: 10.1080/2162402X.2018.1538440. eCollection 2019.

PMID:
30713797
30.

Expanding the Phenotypic Spectrum of CACNA1H Mutations.

Chourasia N, Ossó-Rivera H, Ghosh A, Von Allmen G, Koenig MK.

Pediatr Neurol. 2019 Apr;93:50-55. doi: 10.1016/j.pediatrneurol.2018.11.017. Epub 2018 Dec 19.

PMID:
30686625
31.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
32.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 Sep;21(9):2159-2160. doi: 10.1038/s41436-018-0413-x.

PMID:
30643220
33.

Children's Judgments of Epistemic and Moral Agents: From Situations to Intentions.

Koenig MA, Tiberius V, Hamlin JK.

Perspect Psychol Sci. 2019 May;14(3):344-360. doi: 10.1177/1745691618805452. Epub 2019 Jan 10. Review.

PMID:
30629887
34.

Magnetic reconnection driven by electron dynamics.

Kuramitsu Y, Moritaka T, Sakawa Y, Morita T, Sano T, Koenig M, Gregory CD, Woolsey N, Tomita K, Takabe H, Liu YL, Chen SH, Matsukiyo S, Hoshino M.

Nat Commun. 2018 Nov 30;9(1):5109. doi: 10.1038/s41467-018-07415-3.

35.

Cerebral Edema and Elevated Intracranial Pressure.

Koenig MA.

Continuum (Minneap Minn). 2018 Dec;24(6):1588-1602. doi: 10.1212/CON.0000000000000665. Review.

PMID:
30516597
36.

Antibody responses to Zika virus proteins in pregnant and non-pregnant macaques.

Heffron AS, Mohr EL, Baker D, Haj AK, Buechler CR, Bailey A, Dudley DM, Newman CM, Mohns MS, Koenig M, Breitbach ME, Rasheed M, Stewart LM, Eickhoff J, Pinapati RS, Beckman E, Li H, Patel J, Tan JC, O'Connor DH.

PLoS Negl Trop Dis. 2018 Nov 27;12(11):e0006903. doi: 10.1371/journal.pntd.0006903. eCollection 2018 Nov.

37.

Advanced high resolution x-ray diagnostic for HEDP experiments.

Faenov AY, Pikuz TA, Mabey P, Albertazzi B, Michel T, Rigon G, Pikuz SA, Buzmakov A, Makarov S, Ozaki N, Matsuoka T, Katagiri K, Miyanishi K, Takahashi K, Tanaka KA, Inubushi Y, Togashi T, Yabuuchi T, Yabashi M, Casner A, Kodama R, Koenig M.

Sci Rep. 2018 Nov 6;8(1):16407. doi: 10.1038/s41598-018-34717-9.

38.

X-ray backlighter requirements for refraction-based electron density diagnostics through Talbot-Lau deflectometry.

Valdivia MP, Veloso F, Stutman D, Stoeckl C, Mileham C, Begishev IA, Theobald W, Vescovi M, Useche W, Regan SP, Albertazzi B, Rigon G, Mabey P, Michel T, Pikuz SA, Koenig M, Casner A.

Rev Sci Instrum. 2018 Oct;89(10):10G127. doi: 10.1063/1.5039342.

PMID:
30399908
39.

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M.

J Cyst Fibros. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30.

PMID:
30389601
40.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Erratum in: Genet Med. 2019 Feb 20;:.

PMID:
30356099
41.

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF.

Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8.

PMID:
30341801
42.

Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial.

Slopis JM, Arevalo O, Bell CS, Hebert AA, Northrup H, Riascos RF, Samuels JA, Smith KC, Tate P, Koenig MK.

Drugs R D. 2018 Dec;18(4):295-302. doi: 10.1007/s40268-018-0248-6.

43.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Erratum in: Genet Med. 2019 Jan 14;:.

PMID:
30245510
44.

Rapid and Highly Sensitive Detection of Therapeutically Relevant Oncogenic Driver Mutations in EBUS-TBNA Specimens From Patients With Lung Adenocarcinoma.

Oezkan F, Herold T, Darwiche K, Eberhardt WEE, Worm K, Christoph DC, Wiesweg M, Freitag L, Schmid KW, Theegarten D, Hager T, Koenig MJ, He K, Taube C, Schuler M, Breitenbuecher F.

Clin Lung Cancer. 2018 Nov;19(6):e879-e884. doi: 10.1016/j.cllc.2018.08.016. Epub 2018 Aug 22.

PMID:
30206042
45.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. No abstract available.

46.

Varieties of trust in preschoolers' learning and practical decisions.

Pesch A, Koenig MA.

PLoS One. 2018 Aug 20;13(8):e0202506. doi: 10.1371/journal.pone.0202506. eCollection 2018.

47.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.

Guissart C, Tran Mau Them F, Debant V, Viart V, Dubucs C, Pritchard V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Khau Van Kien P, Brechard MP, Raynal C, Girardet A, Claustres M, Koenig M, Vincent MC.

Fetal Diagn Ther. 2019;45(6):403-412. doi: 10.1159/000489776. Epub 2018 Aug 17.

PMID:
30121677
48.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.

Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

49.

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.

Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN; TSCure Research Group.

Eur J Paediatr Neurol. 2018 Nov;22(6):1066-1073. doi: 10.1016/j.ejpn.2018.06.007. Epub 2018 Jul 4.

PMID:
30005812
50.

Tuberous Sclerosis Complex.

Northrup H, Koenig MK, Pearson DA, Au KS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1999 Jul 13 [updated 2018 Jul 12].

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