REVIEW
|
doi:10.20944/preprints202307.0996.v1
Subject:
Medicine And Pharmacology,
Dermatology
Keywords:
hereditary angioedema guidelines; treatment; prophylaxis; management
Online: 14 July 2023 (08:49:28 CEST)
ARTICLE
|
doi:10.20944/preprints202410.0490.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
Hereditary angioedema; HAE; Healthcare resource; C1 inhibitor; bradykinin; lanadelumab; long-term prophylaxis; LTP; bradykinin-mediated angioedema
Online: 8 October 2024 (03:12:35 CEST)
REVIEW
|
doi:10.20944/preprints202308.0945.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Autoinflammatory Disease; Hereditary Periodic Fever Syndromes; Hereditary Recurrent Fever; Hereditary Autoinflammatory Disease
Online: 14 August 2023 (02:44:49 CEST)
ARTICLE
|
doi:10.20944/preprints202402.0774.v1
Subject:
Medicine And Pharmacology,
Otolaryngology
Keywords:
hereditary hemorrhagic telangiectasia; rhinology; epistaxis
Online: 14 February 2024 (05:30:42 CET)
REVIEW
|
doi:10.20944/preprints202402.0861.v1
Subject:
Medicine And Pharmacology,
Gastroenterology And Hepatology
Keywords:
hereditary; pediatric polyp; polyposis; cancer; syndromes
Online: 16 February 2024 (01:54:32 CET)
CASE REPORT
|
doi:10.20944/preprints202012.0548.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
next-generation sequencing; hereditary breast cancer; Homologous Recombination Repair; hereditary cancer syndrome; Clinical genomics; Molecular diagnostics
Online: 22 December 2020 (10:17:48 CET)
REVIEW
|
doi:10.20944/preprints202404.0949.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Hereditary Hemorrhagic Telangiectasia; Arteriovenous malformations; Pathogenesis; Therapeutics.
Online: 15 April 2024 (10:42:19 CEST)
ARTICLE
|
doi:10.20944/preprints202403.1473.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
Hereditary; Pancreatic cancer; Next Generation Sequencing (NGS)
Online: 25 March 2024 (09:58:18 CET)
ARTICLE
|
doi:10.20944/preprints202310.1567.v1
Subject:
Medicine And Pharmacology,
Reproductive Medicine
Keywords:
hereditary deafness; carrier screening; reproductive decision making
Online: 25 October 2023 (11:30:09 CEST)
ARTICLE
|
doi:10.20944/preprints202004.0366.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
hereditary hematological disorder; Najaf; thalassemia; epidemiology; consanguinity
Online: 20 April 2020 (15:45:27 CEST)
ARTICLE
|
doi:10.20944/preprints202406.1623.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Arteriovenous malformations; Endothelial cells; Endoglin; Hereditary Hemorrhagic Telangiectasia
Online: 24 June 2024 (11:05:52 CEST)
ARTICLE
|
doi:10.20944/preprints202405.1664.v1
Subject:
Public Health And Healthcare,
Public Health And Health Services
Keywords:
hereditary cancer; unaffected family member; NGS multigene panel
Online: 27 May 2024 (10:08:04 CEST)
REVIEW
|
doi:10.20944/preprints202308.0218.v1
Subject:
Public Health And Healthcare,
Primary Health Care
Keywords:
glomerular; GFR; kidney; thalassemia; anemia; hemoglobin; hereditary diseases
Online: 3 August 2023 (08:05:02 CEST)
ARTICLE
|
doi:10.20944/preprints202301.0297.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Congenital Hereditary Endothelial Dystrophy; Mutation; SLC4A11 gene; Cornea
Online: 17 January 2023 (07:15:45 CET)
CASE REPORT
|
doi:10.20944/preprints202104.0780.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
Hereditary Leyomiomatosis and Renal Cell Cancer; Pembrolizumab; Axitinib
Online: 29 April 2021 (15:38:30 CEST)
ARTICLE
|
doi:10.20944/preprints201807.0476.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
BRCA1, BRCA2, Hereditary Breast and Ovarian Cancer, Lynch Syndrome, Hereditary cancer, Family history screening. Risk assessment, Digital tool, Health information technology
Online: 25 July 2018 (09:59:26 CEST)
ARTICLE
|
doi:10.20944/preprints202410.1987.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
kidney; hereditary disorder; DNA repair; whole genome sequencing; toxins
Online: 25 October 2024 (11:54:43 CEST)
ARTICLE
|
doi:10.20944/preprints202409.0910.v1
Subject:
Public Health And Healthcare,
Public Health And Health Services
Keywords:
Communication Asset Mapping; Cancer; Hereditary Risk Assessment; African American
Online: 12 September 2024 (11:27:55 CEST)
ARTICLE
|
doi:10.20944/preprints202310.1215.v1
Subject:
Public Health And Healthcare,
Public Health And Health Services
Keywords:
NGS Multigene panel; hereditary cancer; healthy collateral family members
Online: 19 October 2023 (04:23:52 CEST)
ARTICLE
Subject:
Medicine And Pharmacology,
Hematology
Keywords:
inherited platelet disorders; hereditary thrombocytopenias; blood smear; immunofluorescence; bleeding tendency
Online: 20 January 2020 (09:50:59 CET)
REVIEW
|
doi:10.20944/preprints202305.1010.v2
Subject:
Medicine And Pharmacology,
Pharmacology And Toxicology
Keywords:
kallikrein-kinin system; kininogens; bradykinin; B1 receptor; B2 receptor; hereditary angioedema
Online: 6 June 2023 (09:42:29 CEST)
ARTICLE
|
doi:10.20944/preprints202103.0103.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
Next Generation Sequencing; Laboratory automation; Hereditary Cancer; Genetic Testing; Clinical Genomics.
Online: 2 March 2021 (16:00:24 CET)
ARTICLE
|
doi:10.20944/preprints202008.0718.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
early-onset breast cancer; hereditary cancer; whole-exome sequencing; young women
Online: 31 August 2020 (09:46:26 CEST)
ARTICLE
|
doi:10.20944/preprints201704.0027.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Lynch syndrome; segregation analysis; MSH6 gene; hereditary colorectal cancer; oligogenic model
Online: 5 April 2017 (03:04:02 CEST)
REVIEW
|
doi:10.20944/preprints202402.1362.v1
Subject:
Medicine And Pharmacology,
Gastroenterology And Hepatology
Keywords:
hereditary hemochromatosis; iron overload; HFE gene mutation; non-HFE gene mutation; phlebotomy
Online: 25 February 2024 (23:35:08 CET)
CASE REPORT
|
doi:10.20944/preprints202311.1726.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
Hereditary lymphedema type I,; inherited primary lymphedema,; Milroy's Disease; Complete Decongestive Therapy,
Online: 27 November 2023 (16:51:24 CET)
ARTICLE
|
doi:10.20944/preprints202310.0857.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
endoglin; brain arteriovenous malformation; hereditary hemorrhagic telangiectasia; angiogenesis; vascular disorder; magnetic resonance angiography
Online: 13 October 2023 (08:21:23 CEST)
REVIEW
|
doi:10.20944/preprints202309.1467.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
Anaphylaxis; MCAS; mastocytosis; KIT D816V; tryptase; mediator-release symptoms; Hereditary alpha-tryptasemia; atopy
Online: 21 September 2023 (12:10:22 CEST)
CASE REPORT
|
doi:10.20944/preprints202306.1051.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Clinical exome sequencing, C282Y mutation, Hereditary hemochromatosis, HFE gene, Iron overload, Pseudovitelliform maculopathy
Online: 14 June 2023 (13:47:40 CEST)
ARTICLE
|
doi:10.20944/preprints201809.0399.v1
Subject:
Biology And Life Sciences,
Forestry
Keywords:
scots pine; plus-trees; xylem; lignification; physiological condition; hereditary conditionality; factor analysis; cluster analysis
Online: 20 September 2018 (05:34:23 CEST)
REVIEW
|
doi:10.20944/preprints202308.0453.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
gene editing 1; CRISPR 2; gRNA 3; autoimmune disorders 4; nuclease 5; hereditary disorders 6
Online: 4 August 2023 (19:15:10 CEST)
REVIEW
|
doi:10.20944/preprints202008.0308.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
Hereditary HL; genetics of syndromic and non-syndromic HL; methods for pathogenic locus/gene identification
Online: 14 August 2020 (04:45:23 CEST)
ARTICLE
|
doi:10.20944/preprints202409.0628.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
Hodgkin Lymphoma (HL); Non-Hodgkin Lymphoma (NHL); malignant lymphomas; genetic factors; environmental carcinogenic factors; multifactorial disorders; hereditary
Online: 9 September 2024 (09:21:15 CEST)
REVIEW
|
doi:10.20944/preprints202306.2048.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
oxidative stress; optic nerve; retinal ganglion cell; glaucoma; Leber’s hereditary optic neuropathy; ischemic optic neuropathy; optic neuritis
Online: 28 June 2023 (14:21:15 CEST)
ARTICLE
|
doi:10.20944/preprints202012.0054.v1
Subject:
Computer Science And Mathematics,
Algebra And Number Theory
Keywords:
Patterns recognition; Machine learning; Hereditary Ataxia diseases; K-Nearest Neighbors; Multi Layer Perceptron; Ensemble Classification Trees; SVM.
Online: 2 December 2020 (09:33:15 CET)
REVIEW
|
doi:10.20944/preprints201810.0010.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Gene therapy, gene editing, CRISPR/Cas9, Cas12a, dual AAV, triple AAV, clinical trials, retina, hereditary retinal dystrophies
Online: 1 October 2018 (13:52:23 CEST)
ARTICLE
|
doi:10.20944/preprints202107.0430.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Breast cancer infection; breast cancer immunity; breast cancer virus; nasopharyngeal cancer; EBV cancer; hereditary breast cancer; BRCA1; BRCA2
Online: 20 July 2021 (09:29:06 CEST)
ARTICLE
|
doi:10.20944/preprints202305.1315.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
peripheral nerve ultrasound; tibial nerve; amyotrophic lateral sclerosis; inflammatory neuropathy; hereditary neuropathy; cross-sectional area; nerve microvascular blood flow
Online: 18 May 2023 (09:42:40 CEST)
ARTICLE
|
doi:10.20944/preprints202105.0490.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Breast cancer infection; breast cancer immunity; breast cancer virus; genome biochemistry; nasopharyngeal cancer; herpes viruses; hereditary breast cancer; BRCA1; BRCA2; Burkitt's lymphoma; homologous recombination; DNA repair; viral cancer; chromosome breaks; Breast cancer infection; breast cancer immunity; breast cancer virus; nasopharyngeal cancer; hereditary breast cancer; BRCA1; BRCA2; Burkitt's lymphoma
Online: 20 May 2021 (12:43:11 CEST)
CASE REPORT
|
doi:10.20944/preprints202410.1374.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
congenital insensitivity to pain with anhidrosis; CIPA; hereditary sensory and autonomic neuropathy type IV (HSAN IV); chronic osteomyelitis; case report; complications; pediatric patient
Online: 17 October 2024 (10:30:04 CEST)
REVIEW
|
doi:10.20944/preprints202402.1673.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
systemic amyloidosis; hereditary transthyretin amyloid; immunoglobulin light chain amyloid; transthyretin gene variant carrier; biomarker; neurofilament light chain; polyneuropathy; small fiber neuropathy; autonomic neuropathy
Online: 29 February 2024 (10:42:35 CET)
REVIEW
|
doi:10.20944/preprints201902.0090.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
BRCA1; variants of uncertain clinical significance; VUS; germline variants; hereditary breast and ovarian cancer; breast cancer; genetic testing, ovarian cancer; variant classification; clinical annotation
Online: 11 February 2019 (16:12:03 CET)
HYPOTHESIS
|
doi:10.20944/preprints202109.0372.v1
Subject:
Biology And Life Sciences,
Immunology And Microbiology
Keywords:
Endometriosis; microchimerism; maternal microchimerism; reproduction; gynaecology; etiology; auto-immune; immune response; hormonal; vascular; genetic; hereditary; male; fetal; fetus; stem cells; pregnancy; Műllerianosis; embryology; ROS; apoptosis; disease; endometrium; basalis; menstruation; post-menopausal; neurogenesis
Online: 22 September 2021 (10:27:52 CEST)
ARTICLE
|
doi:10.20944/preprints201907.0347.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
autograft; embryonic stem cells (ESC); growth factor (GF); hereditary retinal disease; induced pluripotent stem cells (iPSCs); Limoli retinal restoration technique (LRRT); mesenchymal stem cell (MSC); retinitis pigmentosa; spectral domain-optical coherence tomography (SD-OCT)
Online: 31 July 2019 (04:45:51 CEST)