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Seite 2 für „Variant“ · Literaturverweise aus öffentlichen Artikeln
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POLR3A variants with striatal involvement and extrapyramidal movement disorder
pubmed · 31940116
Literaturverweis öffnen[Combinations of different types and variants of ectopia of the ureteral ostia].
pubmed · 1871917
Literaturverweis öffnenSevere adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram
pubmed · 42424866
Literaturverweis öffnenDecoding causal genes and programs from regulatory variants in aortic valve disease
doi · 10.64898/2026.05.26.727981
Literaturverweis öffnenCoexisting congenital ectropion uveae and persistent foetal vasculature: a rare variant of neural crest dysgenesis
pubmed · 42410162
Literaturverweis öffnenUsmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant
pubmed · 38665048
Literaturverweis öffnenD e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy
pubmed · 40967764
Literaturverweis öffnenHemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated with SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-month-old Girl: A Case Report
pubmed · 41558656
Literaturverweis öffnenA rare variant of oromandibular limb hypogenesis syndrome: a case report of glossopalatal ankylosis
pubmed · 42148452
Literaturverweis öffnenA de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia
pubmed · 42366043
Literaturverweis öffnenCommon Variant Contributions to Neurodevelopmental Risk in Orofacial Clefts
doi · 10.64898/2026.05.05.26352467
Literaturverweis öffnenSkeletal dysplasia and growth disorder with SEC23A p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia
pubmed · 42441357
Literaturverweis öffnenCase Report: Severe neonatal lupus in an infant with homozygous NCF1 p.Arg90His variant and a der(14)t(4;14) translocation
pubmed · 42183258
Literaturverweis öffnenSyncytial variant of nodular sclerosis Hodgkin lymphoma: an under-emphasized variant
pubmed · 34058246
Literaturverweis öffnenGermline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
pubmed · 33058759
Literaturverweis öffnenPhenotype-Driven Whole-Exome Sequencing Reanalysis Identifies a Homozygous PPP2R3C Variant in Syndromic 46,XY and 46,XX Gonadal Dysgenesis: Case Report and Review of the Literature
pubmed · 42445464
Literaturverweis öffnenRare genetic variants in the IIS/mTOR signalling pathway identified in exceptionally long-lived individuals show shared in vitro effects associated with lifespan across species
doi · 10.64898/2026.05.28.728260
Literaturverweis öffnenEvaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy
pubmed · 37372933
Literaturverweis öffnenDapsone for Treatment of a Neutrophilic Predominant Variant of Polymorphous Light Eruption: A Case Report
pubmed · 42375515
Literaturverweis öffnenThe p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis
pubmed · 30367262
Literaturverweis öffnenNovel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure
pubmed · 39985652
Literaturverweis öffnenEvidence of a de novo variant in FBN1:p.(Ala882Val) as the cause of congenital bilateral ectopia lentis in a crossbred horse
doi · 10.21203/rs.3.rs-5060611/v1
Literaturverweis öffnenA case report of neonatal renal pseudohypoaldosteronism type I caused by a de novo variant in the NR3C2 gene
pubmed · 42146936
Literaturverweis öffnenDouble Trouble: Guillain-Barré Syndrome (GBS) Presenting as Overlapping Miller Fisher Syndrome (MFS) and Pharyngeal-Cervical-Brachial (PCB) Variant
pubmed · 41487841
Literaturverweis öffnenEGLN1-positive familial erythrocytosis: a rare variant with an unusually aggressive clinical course
pubmed · 40627222
Literaturverweis öffnenThe Outbreak of Acute Primary Angle-Closure Cases During the COVID-19 Omicron Variant Pandemic at a Tertiary Eye Center in Shanghai
pubmed · 38162694
Literaturverweis öffnenCase series: Arterial tortuosity syndrome confirmed by homozygous SLC2A10 variants
pubmed · 42253865
Literaturverweis öffnenAtaxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report
pubmed · 42164107
Literaturverweis öffnenPCSK9 rs562556 variant and survival in BRCA1 mutation carriers and mutation-negative familial breast cancer
pubmed · 42297814
Literaturverweis öffnen