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Seite 2 für „variants“ · Literaturverweise aus öffentlichen Artikeln
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Cerebral palsy: causes, pathways, and the role of genetic variants
pubmed · 26003063
Literaturverweis öffnenNovel variants of TP63 identified in Chinese families with split-hand/foot malformation
doi · 10.21203/rs.3.rs-9446031/v1
Literaturverweis öffnenLichen planus pigmentosus and its variants: review and update
pubmed · 29076159
Literaturverweis öffnenIdentification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis
pubmed · 39671116
Literaturverweis öffnenVariants of in situ carcinoma of the endometrium: Clear cell and gastrointestinal types, with a review of the literature
pubmed · 36249906
Literaturverweis öffnenFrail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?
pubmed · 36834577
Literaturverweis öffnenCorrelation between Neurotransmitter Transporter Gene Variants and Childhood Autism Spectrum Disorder: A Case-control Study
pubmed · 40843231
Literaturverweis öffnenDecoding causal genes and programs from regulatory variants in aortic valve disease
doi · 10.64898/2026.05.26.727981
Literaturverweis öffnenCase Report: Dual molecular diagnosis in complex congenital heart disease in an Ecuadorian patient with supravalvar aortic stenosis and pulmonary valve stenosis carrying pathogenic variants in ELN and BRAF gene
pubmed · 42516359
Literaturverweis öffnenGenetic analysis of TGFBI variants in the Taiwanese population: from granular corneal dystrophy type 1 to a broader phenotypic spectrum
pubmed · 42325762
Literaturverweis öffnenInteraction between dietary cholesterol intake and genetic variants for cholesterol absorption in relation to coronary artery disease mortality: a prospective analysis in the Singapore Chinese Health Study
pubmed · 40935150
Literaturverweis öffnenSimultaneous Risk-Reducing Mastectomy and Salpingo-Oophorectomy in Patients with BRCA1 and BRCA2 Pathogenic Variants: A Single-Center Retrospective Cohort Study
pubmed · 42346606
Literaturverweis öffnenGenetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation
pubmed · 42365546
Literaturverweis öffnenReview of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
pubmed · 42387671
Literaturverweis öffnenCase Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants
pubmed · 34513876
Literaturverweis öffnenCongenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1
pubmed · 40776660
Literaturverweis öffnenLate-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants
pubmed · 40976369
Literaturverweis öffnenPOLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report
pubmed · 40518520
Literaturverweis öffnenOphthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients
pubmed · 41917731
Literaturverweis öffnenEGFLAM Pathogenic Variants and Congenital Stationary Night Blindness
pubmed · 41343198
Literaturverweis öffnenIncreasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants
pubmed · 31215153
Literaturverweis öffnenAberrant serum-derived FN1 variants bind to integrin β1 on glomerular endothelial cells contributing to thin basement membrane nephropathy
pubmed · 39368581
Literaturverweis öffnenRespiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 Variants
pubmed · 42295024
Literaturverweis öffnenEpidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta‐analysis
pubmed · 37086676
Literaturverweis öffnenCompound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens
pubmed · 37489040
Literaturverweis öffnenNovel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization
pubmed · 41086097
Literaturverweis öffnenPediatric Congenital Tracheobronchial Variants and Their Clinical Significance for Endotracheal Intubation and Airway Management: A Scoping Review of Fetal, Neonatal, and Pediatric Cases
pubmed · 42220681
Literaturverweis öffnenHeterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy
pubmed · 39924761
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