BRIEF REPORT
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doi:10.20944/preprints202405.1901.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
RP1 gene; Inherited Retinal Dystrophies; Genotype; Phenotype; Retinitis Pigmentosa
Online: 29 May 2024 (09:16:02 CEST)
ARTICLE
|
doi:10.20944/preprints202406.0581.v1
Subject:
Biology And Life Sciences,
Life Sciences
Keywords:
Consanguinity; gene panel; Inherited retinal diseases; retinal dystrophy; targeted next generation sequencing
Online: 11 June 2024 (15:01:06 CEST)
ARTICLE
|
doi:10.20944/preprints202106.0275.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
inherited retinal disease; VUS; functional analysis; minigene assay
Online: 9 June 2021 (23:01:36 CEST)
REVIEW
|
doi:10.20944/preprints202212.0519.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
inherited; retinal; dystrophy; indigenous, black, Africa; genetics
Online: 27 December 2022 (10:45:25 CET)
ARTICLE
|
doi:10.20944/preprints202306.2266.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
Inherited metabolic disease; bibliometric study; newborn screening; gene therapy; metabolomics; molecular genetic analysis; phenylketonuria
Online: 30 June 2023 (14:24:03 CEST)
REVIEW
|
doi:10.20944/preprints202307.0504.v1
Subject:
Medicine And Pharmacology,
Medicine And Pharmacology
Keywords:
non-viral vectors; polymeric nanoparticles; human inherited diseases; gene editing; nano delivery system; CRISPR/Cas9; viral vectors
Online: 10 July 2023 (02:54:37 CEST)
ARTICLE
|
doi:10.20944/preprints202202.0330.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
glioma; genetics; inherited; mutation; germline
Online: 25 February 2022 (09:36:05 CET)
ARTICLE
|
doi:10.20944/preprints202002.0255.v1
Subject:
Biology And Life Sciences,
Insect Science
Keywords:
BMSB; Halyomorpha halys; inherited sterility; irradiation; SIT
Online: 18 February 2020 (03:15:20 CET)
ARTICLE
|
doi:10.20944/preprints202206.0199.v1
Subject:
Biology And Life Sciences,
Biophysics
Keywords:
KCNQ1; Kv7.1; IKs; patch-clamp; inherited channelopathy; LQTS
Online: 14 June 2022 (08:42:22 CEST)
ARTICLE
|
doi:10.20944/preprints202401.1717.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
isovaleric acidemia; false positive; newborn screening; inherited metabolic disease.
Online: 24 January 2024 (09:54:13 CET)
REVIEW
|
doi:10.20944/preprints202309.0186.v1
Subject:
Public Health And Healthcare,
Primary Health Care
Keywords:
Inherited Retinal Dystrophies; Retinitis Pigmentosa; therapeutic strategies; cell therapies
Online: 4 September 2023 (11:29:44 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)
ARTICLE
|
doi:10.20944/preprints202409.0569.v1
Subject:
Biology And Biotechnology,
Biology And Life Sciences
Keywords:
CLRN1; deep intronic; inherited retinal diseases; pseudo-exon; retinitis pigmentosa; splicing
Online: 9 September 2024 (12:40:34 CEST)
CASE REPORT
|
doi:10.20944/preprints202310.1524.v1
Subject:
Medicine And Pharmacology,
Gastroenterology And Hepatology
Keywords:
granular cell tumor; Abrikossoff tumor; multifocal tumor; gastrointestinal tract; inherited tumor
Online: 24 October 2023 (10:32:40 CEST)
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)
COMMUNICATION
|
doi:10.20944/preprints202309.1085.v1
Subject:
Biology And Life Sciences,
Biophysics
Keywords:
Brugada syndrome; BrS; KCNH2; Kv11.1; IKr; patch-clamp; inherited channelopathy; gain-of-function
Online: 18 September 2023 (07:17:25 CEST)
ARTICLE
|
doi:10.20944/preprints202309.1877.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
rod-cone dystrophy; retinitis pigmentosa; RP1 gene; founder effect; inherited retinal dystrophies; founder mutation
Online: 27 September 2023 (11:06:58 CEST)
ARTICLE
|
doi:10.20944/preprints202208.0106.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
DPAGT1; Congenital Disorders of Glycosylation; sensitized chemical mutagenesis screen; mouse genetics; inherited retinal disease; ER Stress
Online: 4 August 2022 (07:08:13 CEST)
ARTICLE
|
doi:10.20944/preprints202401.1980.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Human disease model; Inherited Metabolic Disorders; Inborn Error of Metabolism; Nonketotic Hyperglycinemia; GLDC; iPSC; iPSC-derived astrocytes; serine-glycine-one-carbon metabolism
Online: 29 January 2024 (04:40:23 CET)
ARTICLE
|
doi:10.20944/preprints202311.1258.v1
Subject:
Public Health And Healthcare,
Public Health And Health Services
Keywords:
non-memory led dementia; young onset dementia; inherited dementia; care-partners; carers; caregivers; healthcare professionals; healthcare students; virtual environments; qualitative; arts and health
Online: 20 November 2023 (16:45:26 CET)
REVIEW
|
doi:10.20944/preprints202406.0537.v1
Subject:
Medicine And Pharmacology,
Hematology
Keywords:
CRISPR-Cas; gene editing; gene therapy; hematology; inherited germline predisposition to cancer; bone marrow failure; acute myeloid leukemia; myelodysplastic syndromes; myeloid neoplasms; DNA repair
Online: 10 June 2024 (08:39:04 CEST)
REVIEW
|
doi:10.20944/preprints202107.0377.v1
Subject:
Environmental And Earth Sciences,
Atmospheric Science And Meteorology
Keywords:
Global salt cycle; Wilson cycle; Giant salt accumulations; Subduction; Rifting; Mantle; upwelling; Hydrated mantle; Hydrothermal salt expulsion; Hydrothermal circulation; Basin subsidence; Supercritical fluids; Phase separation; Saline brine; Salt diapir; Bedded salts; Inherited composition; Inherited structures; Lower crustal body; Electrical conductivity; Magnetotelluric method; Seismic velocity; Brittle-ductile behaviour; Continental crust formation; Oceanic crust formation; Hydration of oceanic crust; Serpentinization; Volcanism; Mineral solubility.
Online: 16 July 2021 (14:34:42 CEST)