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1.
Defining mitochondrial protein functions through deep multiomic profiling.
Nature
; 606(7913): 382-388, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35614220
2.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
Blood
; 139(21): 3111-3126, 2022 05 26.
Article
in English
| MEDLINE | ID: mdl-35213692
3.
One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.
J Stroke Cerebrovasc Dis
; 30(9): 105997, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34303089
4.
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
Am J Hum Genet
; 99(2): 299-317, 2016 08 04.
Article
in English
| MEDLINE | ID: mdl-27476657
5.
Extended left hepatectomy for intrahepatic cholangiocarcinoma: hepatic vein reconstruction with in-situ hypothermic perfusion and extracorporeal membrane oxygenation.
BMC Surg
; 18(1): 7, 2018 Jan 31.
Article
in English
| MEDLINE | ID: mdl-29386002
6.
Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.
Eur J Hum Genet
; 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38528055
7.
The effect of colchicine on pyrin and pyrin interacting proteins.
J Cell Biochem
; 113(11): 3536-46, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22730186
8.
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Mol Genet Metab Rep
; 25: 100688, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33335837
9.
The Effect of Leucocytosis, Gender Difference, and Ultrasound in the Diagnosis of Acute Cholecystitis in the Elderly Population.
Emerg Med Int
; 2019: 6428340, 2019.
Article
in English
| MEDLINE | ID: mdl-31065386
10.
Venous stent placement ameliorates cutaneous microvascular function in iliocaval venous obstruction.
J Vasc Surg Venous Lymphat Disord
; 6(1): 57-65, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29248109
11.
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.
Turk J Pediatr
; 59(6): 619-624, 2017.
Article
in English
| MEDLINE | ID: mdl-30035392
12.
Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases.
Psychiatry Investig
; 13(4): 427-33, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27482244
13.
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
J Child Neurol
; 31(7): 913-7, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26809768
14.
Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects.
Turk J Med Sci
; 46(2): 489-94, 2016 Feb 17.
Article
in English
| MEDLINE | ID: mdl-27511516
15.
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
Eur J Med Genet
; 59(11): 604-606, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27638328
16.
DNA damage is increased in lymphocytes of patients with metabolic syndrome.
Mutat Res Genet Toxicol Environ Mutagen
; 782: 30-5, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25868129
17.
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Eur J Paediatr Neurol
; 18(3): 327-37, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24508361
18.
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.
Congenit Anom (Kyoto)
; 58(1): 41-43, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-28321935
19.
A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
J Child Neurol
; 28(7): 926-32, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23611888
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