Detalhe da pesquisa
1.
Correlation between alterations in blood flow of malignant lymphomas after induction chemotherapies and clinical outcomes: a pilot study utilising contrast-enhanced ultrasonography for early interim evaluation of lymphoma treatment.
Clin Radiol
; 76(7): 550.e9-550.e17, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33691950
2.
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Clin Genet
; 93(4): 929-930, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975623
3.
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
Clin Genet
; 93(2): 368-373, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28589569
4.
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
Clin Genet
; 94(3-4): 391-392, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29888467
5.
PRUNE1-related disorder: Expanding the clinical spectrum.
Clin Genet
; 94(3-4): 362-367, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797509
6.
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
Clin Genet
; 93(2): 266-274, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556953
7.
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Clin Genet
; 94(2): 232-238, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700822
8.
Detection of copy number variations in epilepsy using exome data.
Clin Genet
; 93(3): 577-587, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940419
9.
Response to Lefebvre et al.
Clin Genet
; 92(5): 563-564, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28990171
10.
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
Clin Genet
; 92(5): 554-555, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771707
11.
Pancreatoduodenectomy with portal vein resection for distal cholangiocarcinoma.
Br J Surg
; 104(11): 1549-1557, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28782798
12.
The relationship between stroke severity and prior direct oral anticoagulant therapy in patients with acute ischaemic stroke and non-valvular atrial fibrillation.
Eur J Neurol
; 24(11): 1399-1406, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28799181
13.
Challenges for beef production in smallholder communities with low reproductive management skills: a case study from Northern Lao PDR.
Trop Anim Health Prod
; 49(1): 87-96, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718106
14.
Characterization of SPATA5-related encephalopathy in early childhood.
Clin Genet
; 90(5): 437-444, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27246907
15.
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
Clin Genet
; 90(3): 276-81, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26919706
16.
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Clin Genet
; 89(1): 115-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25810209
17.
Molecular genetic analysis of 30 families with Joubert syndrome.
Clin Genet
; 90(6): 526-535, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27434533
18.
Effect of hypoxia on UDP-glucuronosyl transferase mRNA expression in human hepatocarcinoma functional liver celL4 cell line.
Pharmazie
; 71(3): 152-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27183710
19.
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
Clin Genet
; 87(4): 356-61, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24697219
20.
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
Clin Genet
; 87(5): 455-60, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24784932