BRIEF REPORT
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doi:10.20944/preprints202402.0060.v1
Subject:
Biology And Life Sciences,
Neuroscience And Neurology
Keywords:
DSP; Distal Symmetric Polyneuropathy; mtDNA; Common Deletion mutation
Online: 1 February 2024 (14:09:37 CET)
ARTICLE
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doi:10.20944/preprints202308.0448.v1
Subject:
Medicine And Pharmacology,
Epidemiology And Infectious Diseases
Keywords:
SARS-CoV-2; genomic surveillance; NGS; deletion; variants.; clusters
Online: 4 August 2023 (13:34:25 CEST)
ARTICLE
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doi:10.20944/preprints202403.1755.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
autism spectrum disorders; neuregulin 2 (NRG2); insertion/deletion polymorphism (indel)
Online: 28 March 2024 (10:52:32 CET)
REVIEW
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doi:10.20944/preprints202402.1767.v1
Subject:
Medicine And Pharmacology,
Hematology
Keywords:
adverse reactions, haptoglobin deficiency, haptoglobin gene deletion, serum protein, transfusion,.
Online: 29 February 2024 (21:07:24 CET)
ARTICLE
|
doi:10.20944/preprints202007.0739.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Lung-molGPA; exon 19 deletion; Leu858Arg; rare mutation; prognostic implication
Online: 31 July 2020 (09:30:53 CEST)
REVIEW
|
doi:10.20944/preprints202409.1281.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
superficial acral fibromyxoma; Rb 1 deletion; ICH; sclerosing perineuroma; dermatofibrosarcoma protuberans
Online: 17 September 2024 (08:45:20 CEST)
ARTICLE
|
doi:10.20944/preprints202209.0426.v1
Subject:
Medicine And Pharmacology,
Psychiatry And Mental Health
Keywords:
angiotensin-converting enzyme (ACE); antipsychotic medication; polymorphism, insertion/deletion; treatment response
Online: 28 September 2022 (03:12:20 CEST)
ARTICLE
|
doi:10.20944/preprints202310.1076.v1
Subject:
Medicine And Pharmacology,
Oncology And Oncogenics
Keywords:
Hepatocellular carcinoma (HCC); Human immunodeficiency virus (HIV); hepatitis; inflammatory cytokines; mitochondria DNA deletion
Online: 17 October 2023 (11:46:43 CEST)
REVIEW
|
doi:10.20944/preprints202304.0652.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
22q11.2 deletion; microdeletion; DiGeorge syndrome; velocardiofacial syndrome; dysmorphism; inborn errors of immunity; thymus; congenital heart defect; hypocalcemia
Online: 20 April 2023 (10:41:14 CEST)
REVIEW
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doi:10.20944/preprints202007.0334.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
alpha-synuclein; SNCA; PARK2; 22q11.2 deletion syndrome; autism spectrum disorders; neuronal development; Parkinson’s disease; neurodegeneration; synaptic dysfunction
Online: 15 July 2020 (11:36:30 CEST)
REVIEW
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doi:10.20944/preprints202308.1470.v1
Subject:
Biology And Life Sciences,
Endocrinology And Metabolism
Keywords:
Growth hormone receptor (GHR); Human growth hormone; Deletion of exon 3 (d3GHR); Polymorphism; Growth and development; Hormone deficiency
Online: 21 August 2023 (11:59:26 CEST)
ARTICLE
|
doi:10.20944/preprints202408.1325.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
sensory processing; neurodevelopmental disorders; Autism Spectrum Disorder; Attention Deficit Hyperactivity Disorder; Learning Disorder; Developmental Disorder; Williams Syndrome; 22q11.2 Deletion Syndrome; Pseudohypoparathyroidism; children
Online: 19 August 2024 (12:13:51 CEST)
CASE REPORT
|
doi:10.20944/preprints202406.1511.v1
Subject:
Medicine And Pharmacology,
Hematology
Keywords:
ibrutinib; 17p deletion; kidney biopsy; renal lymphomatous infiltration; monoclonal b cell lymphocytosis (mbl); complications of cll; venetoclax; chronic lymphocytic leukemia (cll); cll treatment; renal involvement in cll
Online: 24 June 2024 (07:41:28 CEST)
REVIEW
|
doi:10.20944/preprints202401.0237.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
congenital heart disease; first heart field; second heart field; whole exome sequencing; whole genome sequencing; loss-of-function variant; copy number variants; gene variants; deletion; de novo mutations
Online: 3 January 2024 (11:57:54 CET)