Detalhe da pesquisa
1.
Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.
Am J Med Genet A
; 188(9): 2808-2814, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451551
2.
Quantitative Pupillometry in the Intensive Care Unit.
J Intensive Care Med
; 36(4): 383-391, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31601157
3.
Early Initiation of Oral Antihypertensives Reduces Intensive Care Unit Stay and Hospital Cost for Patients with Hypertensive Intracerebral Hemorrhage.
Neurocrit Care
; 32(3): 707-714, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32253732
4.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
5.
Acute spontaneous intracerebral haemorrhage: does a care bundle approach work?
Lancet
; 402(10395): 2-3, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245518
6.
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
BMC Med Genet
; 19(1): 100, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907092
7.
Ethical and Professional Challenges Encountered by Laboratory Genetic Counselors.
J Genet Couns
; 24(4): 580-96, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25398381
8.
Contemporary Reversal of Oral Anticoagulation in Intracerebral Hemorrhage.
Stroke
; 50(2): 529-536, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30636573
9.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Hum Mutat
; 34(6): 827-35, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23504663
10.
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Neurogenetics
; 14(1): 11-22, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334463
11.
Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors' experiences and attitudes.
Prenat Diagn
; 33(4): 371-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23450520
12.
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum Mutat
; 33(3): 457-66, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213154
13.
Impact of post-operative complications on quality of life after pancreatectomy.
JOP
; 13(4): 387-93, 2012 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22797394
14.
Differences between bipolar compression and ultrasonic devices for parenchymal transection during laparoscopic liver resection.
HPB (Oxford)
; 14(2): 126-31, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22221574
15.
Comparative Studies of Cerebral Reperfusion Injury in the Posterior and Anterior Circulations After Mechanical Thrombectomy.
Transl Stroke Res
; 13(4): 556-564, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35006533
16.
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Hum Mutat
; 32(2): 152-67, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848652
17.
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
J Hum Genet
; 56(8): 589-94, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697856
18.
Phase II comparison study of intraoperative autotransfusion for major oncologic procedures.
Ann Surg Oncol
; 18(1): 166-73, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21222043
19.
Irreversible electroporation of the pancreas: definitive local therapy without systemic effects.
J Surg Oncol
; 104(1): 22-8, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21360714
20.
Hepatectomy after hepatic arterial therapy with either yttrium-90 or drug-eluting bead chemotherapy: is it safe?
HPB (Oxford)
; 13(2): 91-5, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21241425