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Items: 1 to 20 of 32138

1.

[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].

Morán-Mariños C, Vilchez-Cornejo J, Quispe-Colquepisco S.

Rev Gastroenterol Peru. 2018 Jul-Sep;38(3):280-284. Spanish.

PMID:
30540732
2.

Standards of Care for Hypoparathyroidism in Adults.

Khan AA, Koch C, Van Uum SHM, Baillargeon JP, Bollerslev J, Brandi ML, Marcocci C, Rejnmark L, Rizzoli R, Shrayyef MZ, Thakker RV, Yildiz BO, Clarke B.

Eur J Endocrinol. 2018 Dec 1. pii: EJE-18-0609.R1. doi: 10.1530/EJE-18-0609. [Epub ahead of print]

PMID:
30540559
3.

[Operative treatment of acute mesenteric ischaemia].

Hevér T, Fórizs Z, Lóderer Z.

Magy Seb. 2018 Dec;71(4):149-154. doi: 10.1556/1046.71.2018.4.1. Hungarian.

PMID:
30540513
4.

Extracranial internal carotid artery occlusive dissection - multimodality presentation in a case series.

Rafailidis V, Notas K, Destanis E, Kouskouras K, Chryssogonidis I, Xerras C, Charitanti-Kouridou A, Tegos T.

Vasa. 2018 Dec 12:1-7. doi: 10.1024/0301-1526/a000768. [Epub ahead of print]

PMID:
30539689
5.

Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies.

Busse PJ, Farkas H, Banerji A, Lumry WR, Longhurst HJ, Sexton DJ, Riedl MA.

BioDrugs. 2018 Dec 12. doi: 10.1007/s40259-018-0325-y. [Epub ahead of print] Review.

PMID:
30539362
6.

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.

Vignatelli L, Antelmi E, Ceretelli I, Bellini M, Carta C, Cortelli P, Ferini-Strambi L, Ferri R, Guerrini R, Ingravallo F, Marchiani V, Mari F, Pieroni G, Pizza F, Verga MC, Verrillo E, Taruscio D, Plazzi G.

Neurol Sci. 2018 Dec 12. doi: 10.1007/s10072-018-3666-x. [Epub ahead of print]

PMID:
30539345
7.

The Clinical Characteristics of Spinal Epidural Lipomatosis in the Lumbar Spine.

Park SK, Han JM, Lee K, Cho WJ, Oh JH, Choi YS.

Anesth Pain Med. 2018 Oct 20;8(5):e83069. doi: 10.5812/aapm.83069. eCollection 2018 Oct.

PMID:
30538942
8.

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.

Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H.

Appl Clin Genet. 2018 Nov 23;11:157-162. doi: 10.2147/TACG.S183418. eCollection 2018.

PMID:
30538526
9.

Parental-Caregivers Perceptions Questionnaire (P-CPQ): translation and evaluation of psychometric properties of the French version of the questionnaire.

Razanamihaja N, Boy-Lefèvre ML, Jordan L, Tapiro L, Berdal A, de la Dure-Molla M, Azogui-Levy S.

BMC Oral Health. 2018 Dec 11;18(1):211. doi: 10.1186/s12903-018-0670-8.

PMID:
30537964
10.

A case of arrhythmogenic right ventricular cardiomyopathy presenting with progressive right ventricular failure and recurrent multifocal monomorphic ventricular tachycardia during 15 years of follow-up.

Kuwabara K, Hirata K, Wake M, Takahashi T, Nakazato J, Yagi N, Fukuyama A.

J Cardiol Cases. 2014 Sep 26;10(6):216-220. doi: 10.1016/j.jccase.2014.07.014. eCollection 2014 Dec.

PMID:
30534247
11.

Multiple vertebral fractures precipitate a platypnea-orthodeoxia syndrome in a patient with atrial septal defect and aortic root dilatation: When the upright position becomes intolerable.

Galiuto L, Fedele E, Locorotondo G, Paraggio L, Danza ML, DeVito E, Masi A, Rebuzzi AG, Crea F.

J Cardiol Cases. 2012 Jun 27;6(2):e45-e48. doi: 10.1016/j.jccase.2012.04.008. eCollection 2012 Aug.

PMID:
30533069
12.

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2018 Dec 10. doi: 10.1002/mds.27559. [Epub ahead of print]

PMID:
30537300
13.

Otopathology in Angiosarcoma of the Temporal Bone.

Chen JX, Kozin ED, O'Malley J, Chebib I, Hedley-Whyte ET, Faquin W, Nadol J Jr, Quesnel AM.

Laryngoscope. 2018 Dec 11. doi: 10.1002/lary.27281. [Epub ahead of print]

PMID:
30536838
14.

BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.

Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S.

Muscle Nerve. 2018 Dec 7. doi: 10.1002/mus.26394. [Epub ahead of print] No abstract available.

PMID:
30536747
15.

Humoral immunodeficiencies: conferred risk of infections and benefits of immunoglobulin replacement therapy.

Gernez Y, Baker MG, Maglione PJ.

Transfusion. 2018 Dec;58 Suppl 3:3056-3064. doi: 10.1111/trf.15020.

PMID:
30536429
16.

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER, Groebner R, Zschocke J, van der Knaap MS.

Neurogenetics. 2018 Dec 8. doi: 10.1007/s10048-018-0560-x. [Epub ahead of print]

PMID:
30535813
17.

Comprehensive anatomical and functional imaging in patients with type I neurofibromatosis using simultaneous FDG-PET/MRI.

Reinert CP, Schuhmann MU, Bender B, Gugel I, la Fougère C, Schäfer J, Gatidis S.

Eur J Nucl Med Mol Imaging. 2018 Dec 8. doi: 10.1007/s00259-018-4227-5. [Epub ahead of print]

PMID:
30535768
18.

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

Lee JJY, van Karnebeek CDM, Wasserman WW.

J Am Med Inform Assoc. 2018 Dec 7. doi: 10.1093/jamia/ocy153. [Epub ahead of print]

PMID:
30535356
19.

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.

Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ.

JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020.

PMID:
30535218
20.

A diagnostic algorithm for pulmonary hypertension due to left heart disease in resource-limited settings: can busy clinicians adopt a simple, practical approach?

Dzudie A, Kengne AP, Lamont K, Dzekem BS, Aminde LN, Abanda MH, Thienemann F, Sliwa K.

Cardiovasc J Afr. 2018 Nov 30;29:1-7. doi: 10.5830/CVJA-2018-042. [Epub ahead of print] Review.

PMID:
30534850

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