CASE REPORT
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doi:10.20944/preprints202307.0460.v1
Subject:
Public Health And Healthcare,
Public Health And Health Services
Keywords:
Osteopetrosis; Pyloric stenosis; Familial
Online: 7 July 2023 (05:10:19 CEST)
ARTICLE
|
doi:10.20944/preprints202405.0799.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
Familial history; coronary artery disease; atherosclerosis
Online: 13 May 2024 (07:57:19 CEST)
BRIEF REPORT
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doi:10.20944/preprints202409.0522.v1
Subject:
Other,
Medicine And Pharmacology
Keywords:
Familial hypercholesterolemia; Founder effect; Identical by descent variant
Online: 6 September 2024 (10:26:59 CEST)
ARTICLE
|
doi:10.20944/preprints202103.0257.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
SLC15A4; germline variant; familial colorectal cancer; whole exome sequencing
Online: 9 March 2021 (10:24:33 CET)
ARTICLE
|
doi:10.20944/preprints202103.0121.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Familial colorectal cancer; SRC; germline variant; whole genome sequencing
Online: 3 March 2021 (09:52:06 CET)
ARTICLE
|
doi:10.20944/preprints202101.0023.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
Familial Adenomatous Polyposis; APC; Splicing; Exon Skipping; FAP Pathogenesis
Online: 4 January 2021 (11:59:26 CET)
ARTICLE
|
doi:10.20944/preprints202407.0863.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
total blood cholesterol; dried blood spots; familial hypercholesterolemia; newborn screening.
Online: 10 July 2024 (12:59:18 CEST)
ARTICLE
|
doi:10.20944/preprints202406.0249.v1
Subject:
Medicine And Pharmacology,
Internal Medicine
Keywords:
Neisseria; commensals; intra-familial transmission; oropharynx; horizontal gene transfer; Belgium
Online: 5 June 2024 (12:36:37 CEST)
ARTICLE
|
doi:10.20944/preprints202311.0526.v1
Subject:
Biology And Life Sciences,
Cell And Developmental Biology
Keywords:
familial hypercholesterolemia; LDLR; patient-specific iPSCs; directed differentiation; endothelial cells
Online: 8 November 2023 (16:14:59 CET)
REVIEW
|
doi:10.20944/preprints202008.0174.v1
Subject:
Medicine And Pharmacology,
Dietetics And Nutrition
Keywords:
diet; plant sterols; stanols; omega-3 fatty acids; familial hypercholesterolemia
Online: 7 August 2020 (06:13:47 CEST)
ARTICLE
|
doi:10.20944/preprints202407.0557.v1
Subject:
Medicine And Pharmacology,
Internal Medicine
Keywords:
Familial Chylomicronemia Syndrome; severe hypertriglyceridemia; Volanesorsen; antisense oligonucleotide; Platelets; thrombin generation
Online: 8 July 2024 (09:10:30 CEST)
REVIEW
|
doi:10.20944/preprints202408.0282.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
familial pancreatic cancer; BRCA2; BRCA1; PARP inhibitor; Pancreatic Ductal Adenocarcinoma; Homologous recombination
Online: 5 August 2024 (14:02:08 CEST)
HYPOTHESIS
|
doi:10.20944/preprints202303.0476.v2
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Alzheimer's Disease; Familial Alzheimer Disease (FAD); presenilins; Amyloid beta Precursor Protein; mutation
Online: 23 April 2023 (02:50:35 CEST)
ARTICLE
|
doi:10.20944/preprints202105.0344.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
Familial hypercholesterolemia; identification; implementation outcomes; cascade screening; cascade testing; chatbots; direct contact
Online: 14 May 2021 (14:49:21 CEST)
ARTICLE
|
doi:10.20944/preprints202102.0040.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
APCDD1; HDAC5; germline variants; familial colorectal cancer; whole exome sequencing; promoter activity
Online: 1 February 2021 (14:04:24 CET)
BRIEF REPORT
|
doi:10.20944/preprints202403.1184.v1
Subject:
Biology And Life Sciences,
Cell And Developmental Biology
Keywords:
Familial Mediterranean fever; macrophages; patient-specific induced pluripotent stem cells; differentiation; MEFV gene
Online: 20 March 2024 (08:24:36 CET)
ARTICLE
|
doi:10.20944/preprints202012.0416.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
dysbiosis; familial adenomatous polyposis,; ulcerative colitis; 16S rRNA; gut microbiota; geo-graphic populations
Online: 16 December 2020 (18:05:43 CET)
ARTICLE
|
doi:10.20944/preprints202307.0854.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
Proteome; Alzheimer's Disease; Familial Alzheimer's disease; PSEN1; A431E; Mesenchymal Stem Cells; Proteostasis; Olfactory; Neurodegeneration; FAD
Online: 12 July 2023 (13:37:00 CEST)
CASE REPORT
|
doi:10.20944/preprints202305.2038.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Familial hypercholesterolemia; Next Generation Sequencing; LDL-cholesterol; LDLR gene; Copy number variations (CNVs); Alu sequences
Online: 30 May 2023 (04:25:02 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)
BRIEF REPORT
|
doi:10.20944/preprints202310.1087.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
autoinflammatory diseases; SARS-CoV-2; vaccination; familial Mediterranean fever Adult-onset Still's disease; cryopyrin-associated periodic syndrome; systemic autoinflammatory diseases
Online: 17 October 2023 (11:54:44 CEST)
CASE REPORT
|
doi:10.20944/preprints202409.0614.v1
Subject:
Surgery,
Medicine And Pharmacology
Keywords:
Hugo RAS Total colectomy; Robotic total colectomy; Minimally Invasive Surgical Procedure; Robotic colorectal surgery; Familial Adenomatous polyposis; Robotic technical surgery aspects
Online: 9 September 2024 (08:27:59 CEST)
ARTICLE
|
doi:10.20944/preprints201804.0079.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Alzheimer’s disease (AD); amyloid precursor protein (APP); familial AD (FAD); sporadic AD (SAD); BACE1 inhibitors; APP-independent generation of beta amyloid
Online: 6 April 2018 (15:16:08 CEST)
ARTICLE
|
doi:10.20944/preprints202207.0397.v1
Subject:
Social Sciences,
Behavior Sciences
Keywords:
Familial hypercholesterolemia; Neuropsychological outcomes; Cognition; Health literacy; Quality of Life; Affective ranges; HADS; WHO-QOL BREF; Oman; Famiilial hypercholesterolemia; Neuropsychological outcomes; Cognition; Health Literacy; Affective ranges; HADS; Oman
Online: 26 July 2022 (08:16:04 CEST)