Detalhe da pesquisa
1.
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Hum Mol Genet
; 31(15): 2571-2581, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262690
2.
Treatment of breast cancer with autophagy inhibitory microRNAs carried by AGO2-conjugated nanoparticles.
J Nanobiotechnology
; 18(1): 65, 2020 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32345308
3.
Real-time ultrasound elastographic evaluation of extraocular muscle involvement in Graves' ophthalmopathy.
Orbit
; 39(3): 160-164, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31296093
4.
A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.
Neuropediatrics
; 50(1): 51-53, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30440076
5.
Color Doppler imaging of ocular hemodynamic changes in patients with rheumatoid arthritis unrelated to disease activity.
Rheumatol Int
; 39(6): 1001-1006, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30864110
6.
An assessment of ocular elasticity using real time ultrasound and ocular response analyzer in active or remission rheumatoid arthritis.
Int Ophthalmol
; 39(10): 2187-2194, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30511206
7.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
8.
Optic Nerve Head Elastometry in Both Eyes of Patients with Unilateral Non-arteritic Anterior Ischaemic Optic Neuropathy - May It Be a Novel Aspect of the Pathogenesis?
Neuroophthalmology
; 42(4): 222-228, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30042792
9.
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
J Inherit Metab Dis
; 39(3): 331-340, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038030
10.
Foetal biometry in polyhydramnios: Does femur length fall behind?
J Obstet Gynaecol
; 36(3): 312-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26467094
11.
Renal Cell Carcinoma Metastasis to Ipsilateral Parotid and Submandibular Glands: Report of a Case with Sonoelastographic Findings.
Pol J Radiol
; 81: 17-20, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834866
12.
Strain ratio measurement of femoral cartilage by real-time elastosonography: preliminary results.
Eur Radiol
; 25(4): 987-93, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25417127
13.
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Eur J Pediatr
; 174(8): 1077-84, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754625
14.
Transabdominal Sonographic Study of the Cavum Vergae Detection Rate in Healthy Third-Trimester Fetuses.
J Ultrasound Med
; 34(8): 1407-14, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206826
15.
Choroid plexus separation in fetuses without ventriculomegaly: Natural course and postnatal outcome.
J Clin Ultrasound
; 43(8): 478-84, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25944024
16.
Depression and anxiety among parents of phenylketonuria children.
Neurosciences (Riyadh)
; 20(4): 350-6, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492114
17.
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Mol Genet Metab
; 113(4): 267-73, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25410056
18.
Early effects of inactivated (CoronaVac) SARS-CoV-2 vaccine on retrobulbar vascular blood flow and retinal vascular density.
Photodiagnosis Photodyn Ther
; 42: 103584, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37094610
19.
Immunosuppressive Medication Adherence in Patients With Hepatocellular Cancer Who Have Undergo Liver Transplantation: A Case Control Study.
Transplant Proc
; 55(5): 1231-1238, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37080874
20.
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.
Turk J Pediatr
; 54(4): 409-12, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692723