ARTICLE
|
doi:10.20944/preprints202105.0068.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Mitochondrial Encephalohepatopathy, Trio-family, autosomal recessive, GEMINI tool, ClinVar database
Online: 5 May 2021 (15:02:57 CEST)
ARTICLE
|
doi:10.20944/preprints202404.1957.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
gyrate atrophy of the choroid and retina (GACR); OAT gene; carrier; allele; autosomal recessive
Online: 30 April 2024 (07:28:31 CEST)
ARTICLE
|
doi:10.20944/preprints202306.0140.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
familial dysbetalipoproteinemia; hyperlipoproteinemia type III; APOE; apolipoprotein E; apolipoprotein B; autosomal dominant; remnant lipoproteins; hyperlipidemia; population; genetic
Online: 2 June 2023 (08:53:37 CEST)
ARTICLE
|
doi:10.20944/preprints202405.1279.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS); cerebellar ataxia; Charcot-Marie-Tooth disease (CMT); Korean; SACS
Online: 20 May 2024 (13:09:19 CEST)
REVIEW
|
doi:10.20944/preprints202305.2254.v1
Subject:
Medicine And Pharmacology,
Urology And Nephrology
Keywords:
autosomal dominant polycystic kidney disease; total kidney volume; cyst volume; non-cystic tissue; magnetic resonance imaging; segmentation; artificial intelligence
Online: 31 May 2023 (13:18:14 CEST)
ARTICLE
|
doi:10.20944/preprints202309.0569.v1
Subject:
Biology And Life Sciences,
Life Sciences
Keywords:
Differential extraction; Sexual Assault Kit (SAK); Sperm DNA; STRmix™, Combined DNA Index System (CODIS); Forensic DNA analysis; Low Sperm Samples; DNA Mixtures; Autosomal STR Analysis; SpermX
Online: 8 September 2023 (04:56:01 CEST)
ARTICLE
|
doi:10.20944/preprints201802.0165.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leuco encephalopathy (CADASIL); Carotid Endarterectomy (CEA); Modified Rankin Scale (MRS); Computed Tomography(CT); Tissue plasminogen activator (tPA); Diffusion weighted Imaging (DWI); Recognition of Stroke in the Emergency Room (ROSIER) scale; Magnetic resonance Imaging (MRI); Internal Carotid Artery (ICA)
Online: 26 February 2018 (11:46:47 CET)