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Items: 1 to 20 of 1718

1.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 Apr 10. pii: S0002-9297(19)30101-6. doi: 10.1016/j.ajhg.2019.03.005. [Epub ahead of print]

PMID:
30982612
2.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics, McNeill A, Graziano C, Lefebvre V.

Am J Hum Genet. 2019 Apr 4;104(4):777. doi: 10.1016/j.ajhg.2019.01.014. No abstract available.

PMID:
30951678
3.

Machine Learning in Medicine.

Rajkomar A, Dean J, Kohane I.

N Engl J Med. 2019 Apr 4;380(14):1347-1358. doi: 10.1056/NEJMra1814259. Review. No abstract available.

PMID:
30943338
4.

Relationships between three and twelve month outcomes in children enrolled in the therapeutic hypothermia after pediatric cardiac arrest trials.

Slomine BS, Silverstein FS, Page K, Holubkov R, Christensen JR, Dean JM, Moler FW; Therapeutic Hypothermia after Pediatric Cardiac Arrest (THAPCA) Trial Investigators.

Resuscitation. 2019 Mar 26. pii: S0300-9572(19)30088-7. doi: 10.1016/j.resuscitation.2019.03.020. [Epub ahead of print]

PMID:
30922934
5.

Secondary Abdominoplasty: Management of the Umbilicus after Prior Stalk Transection.

Dean RA, Dean JA, Matarasso A.

Plast Reconstr Surg. 2019 Apr;143(4):729e-733e. doi: 10.1097/PRS.0000000000005415.

PMID:
30921121
6.

Automatically Charting Symptoms From Patient-Physician Conversations Using Machine Learning.

Rajkomar A, Kannan A, Chen K, Vardoulakis L, Chou K, Cui C, Dean J.

JAMA Intern Med. 2019 Mar 25. doi: 10.1001/jamainternmed.2018.8558. [Epub ahead of print] No abstract available.

PMID:
30907920
7.

CNS function and dysfunction during exposure to hyperbaric oxygen in operational and clinical settings.

Ciarlone GE, Hinojo CM, Stavitzski NM, Dean JB.

Redox Biol. 2019 Mar 9:101159. doi: 10.1016/j.redox.2019.101159. [Epub ahead of print] Review.

8.

Barriers to Accessing Sexual Health Services for Transgender and Male Sex Workers: A Systematic Qualitative Meta-summary.

Brookfield S, Dean J, Forrest C, Jones J, Fitzgerald L.

AIDS Behav. 2019 Mar 13. doi: 10.1007/s10461-019-02453-4. [Epub ahead of print] Review.

PMID:
30868447
9.

Post-stroke deficits in the step-by-step control of paretic step width.

Stimpson KH, Heitkamp LN, Embry AE, Dean JC.

Gait Posture. 2019 Mar 6;70:136-140. doi: 10.1016/j.gaitpost.2019.03.003. [Epub ahead of print]

PMID:
30856525
10.

The cost of diagnostic uncertainty: a prospective economic analysis of febrile children attending an NHS emergency department.

Leigh S, Grant A, Murray N, Faragher B, Desai H, Dolan S, Cabdi N, Murray JB, Rejaei Y, Stewart S, Edwardson K, Dean J, Mehta B, Yeung S, Coenen F, Niessen LW, Carrol ED.

BMC Med. 2019 Mar 6;17(1):48. doi: 10.1186/s12916-019-1275-z.

11.

One-year cognitive and neurologic outcomes in survivors of paediatric extracorporeal cardiopulmonary resuscitation.

Meert K, Slomine BS, Silverstein FS, Christensen J, Ichord R, Telford R, Holubkov R, Dean JM, Moler FW; Therapeutic Hypothermia after Paediatric Cardiac Arrest (THAPCA) Trial Investigatorss.

Resuscitation. 2019 Feb 25. pii: S0300-9572(19)30042-5. doi: 10.1016/j.resuscitation.2019.02.023. [Epub ahead of print]

PMID:
30818016
12.

Double Burden of Rural Migration in Canada? Considering the Social Determinants of Health Related to Immigrant Settlement Outside the Cosmopolis.

Patel A, Dean J, Edge S, Wilson K, Ghassemi E.

Int J Environ Res Public Health. 2019 Feb 26;16(5). pii: E678. doi: 10.3390/ijerph16050678. Review.

13.

Cardiac Arrest Outcomes in Children With Preexisting Neurobehavioral Impairment.

Christensen JR, Slomine BS, Silverstein FS, Page K, Holubkov R, Dean JM, Moler FW; Therapeutic Hypothermia after Pediatric Cardiac Arrest (THAPCA) Trial Investigators.

Pediatr Crit Care Med. 2019 Feb 20. doi: 10.1097/PCC.0000000000001897. [Epub ahead of print]

PMID:
30807545
14.

A case study on the application of an expert-driven read-across approach in support of quantitative risk assessment of p,p'-dichlorodiphenyldichloroethane.

Lizarraga LE, Dean JL, Kaiser JP, Wesselkamper SC, Lambert JC, Zhao QJ.

Regul Toxicol Pharmacol. 2019 Apr;103:301-313. doi: 10.1016/j.yrtph.2019.02.010. Epub 2019 Feb 19.

PMID:
30794837
15.

Predictive Validity of a 2-Question Alcohol Screen at 1-, 2-, and 3-Year Follow-up.

Linakis JG, Bromberg JR, Casper TC, Chun TH, Mello MJ, Richards R, Mull CC, Shenoi RP, Vance C, Ahmad F, Bajaj L, Brown KM, Chernick LS, Cohen DM, Fein J, Horeczko T, Levas MN, McAninch B, Monuteaux MC, Grupp-Phelan J, Powell EC, Rogers A, Suffoletto B, Dean JM, Spirito A; Pediatric Emergency Care Applied Research Network.

Pediatrics. 2019 Mar;143(3). pii: e20182001. doi: 10.1542/peds.2018-2001. Epub 2019 Feb 19.

PMID:
30783022
16.

Development of a binational thyroid cancer clinical quality registry: a protocol paper.

Ioannou LJ, Serpell J, Dean J, Bendinelli C, Gough J, Lisewski D, Miller JA, Meyer-Rochow W, Sidhu S, Topliss D, Walters D, Zalcberg J, Ahern S.

BMJ Open. 2019 Jan 28;9(1):e023723. doi: 10.1136/bmjopen-2018-023723.

17.

A Clinical Prediction Rule to Identify Febrile Infants 60 Days and Younger at Low Risk for Serious Bacterial Infections.

Kuppermann N, Dayan PS, Levine DA, Vitale M, Tzimenatos L, Tunik MG, Saunders M, Ruddy RM, Roosevelt G, Rogers AJ, Powell EC, Nigrovic LE, Muenzer J, Linakis JG, Grisanti K, Jaffe DM, Hoyle JD Jr, Greenberg R, Gattu R, Cruz AT, Crain EF, Cohen DM, Brayer A, Borgialli D, Bonsu B, Browne L, Blumberg S, Bennett JE, Atabaki SM, Anders J, Alpern ER, Miller B, Casper TC, Dean JM, Ramilo O, Mahajan P; Febrile Infant Working Group of the Pediatric Emergency Care Applied Research Network (PECARN).

JAMA Pediatr. 2019 Feb 18. doi: 10.1001/jamapediatrics.2018.5501. [Epub ahead of print]

PMID:
30776077
18.

Interdisciplinary, Intensive, Activity-Based Treatment for Intrauterine Spinal Cord Infarct: A Case Report.

Felter CE, Neuland EE, Iuculano SC, Dean J.

Top Spinal Cord Inj Rehabil. 2019 Winter;25(1):97-103. doi: 10.1310/sci18-00025. Epub 2018 Dec 12. Review.

PMID:
30774293
19.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2.

20.

The Association of Short-term Ultraviolet Radiation Exposure and Disease Severity in Juvenile Dermatomyositis.

Neely J, Long CS, Sturrock H, Kim S; CARRA Registry Investigators.

Arthritis Care Res (Hoboken). 2019 Feb 4. doi: 10.1002/acr.23840. [Epub ahead of print]

PMID:
30714338

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