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Seite 4 für „Variant“ · Literaturverweise aus öffentlichen Artikeln
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Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia
pubmed · 42311177
Literaturverweis öffnenMycosis fungoides: Classic disease and variant presentations
pubmed · 10892710
Literaturverweis öffnenCase Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation
pubmed · 41816791
Literaturverweis öffnenIdentification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis
pubmed · 39671116
Literaturverweis öffnenPTHLH gene variant in an Indian boy with brachydactyly type E: A case report and literature review
pubmed · 42441359
Literaturverweis öffnenVariants of in situ carcinoma of the endometrium: Clear cell and gastrointestinal types, with a review of the literature
pubmed · 36249906
Literaturverweis öffnenCorrection to 'Programmed Cell Death 1 Genetic Variant and Liver Damage in Nonalcoholic Fatty Liver Disease'
pubmed · 42387839
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 öffnenHeat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant
pubmed · 41211063
Literaturverweis öffnenA Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model
pubmed · 42082826
Literaturverweis öffnenDecoding causal genes and programs from regulatory variants in aortic valve disease
doi · 10.64898/2026.05.26.727981
Literaturverweis öffnenTraumatic Obturator Variant of Anterior Hip Dislocation - A Case Series
pubmed · 42131014
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 öffnenThyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence
pubmed · 42147080
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 öffnenLichen planus pigmentosus and its variants: review and update
pubmed · 29076159
Literaturverweis öffnenGenetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation
pubmed · 42365546
Literaturverweis öffnenChallenges in functional validation and mechanistic interpretation of a novel LACC1 variant in familial juvenile arthritis
pubmed · 41736164
Literaturverweis öffnenReview of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
pubmed · 42387671
Literaturverweis öffnenExstrophied Variant of Rectal Duplication Cyst with Supernumerary Kidney
pubmed · 39968262
Literaturverweis öffnenA Novel Variant of CORO1A Gene Contributing to the Development of Primary Immunodeficiency in Children
pubmed · 42318436
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 Hypoglossia With Craniofacial Anomalies Without Limb Defects: A Rare Phenotypic Variant of Oromandibular-Limb Hypogenesis Syndrome
pubmed · 42440826
Literaturverweis öffnenA Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review
pubmed · 42386221
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