ARTICLE
|
doi:10.20944/preprints202105.0751.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Recessive Alleles; Heterozygote advantage; Lethal Genes
Online: 31 May 2021 (11:37:33 CEST)
ARTICLE
|
doi:10.20944/preprints202009.0062.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
retinitis pigmentosa; TULP1; RPE65; recessive; missense; frameshift
Online: 3 September 2020 (07:16:45 CEST)
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/preprints202105.0519.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
WES analysis; POF; Galaxy platform; GEMINI tool; X-linked recessive; ClinVar
Online: 21 May 2021 (10:13:15 CEST)
COMMUNICATION
|
doi:10.20944/preprints202305.0357.v1
Subject:
Medicine And Pharmacology,
Dermatology
Keywords:
ABCB5; cell therapy; mesenchymal stromal cells; recessive dystrophic epidermolysis bullosa; wound healing
Online: 5 May 2023 (10:49:57 CEST)
REVIEW
|
doi:10.20944/preprints202311.0801.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Dysferlinopathy; limb-girdle muscular dystrophy recessive type 2 (LGMDR2); Miyoshi myopathy; distal myopathy with anterior tibial onset (DMAT); dysferlin; membrane resealing; genetic therapy; mini-dysferlin; exon skipping
Online: 13 November 2023 (10:41:28 CET)