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Seite 5 für „Variant“ · Literaturverweise aus öffentlichen Artikeln
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Congenital 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 öffnenThyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence
pubmed · 42147080
Literaturverweis öffnenLate-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants
pubmed · 40976369
Literaturverweis öffnenDe novo activating GUCY2C variant with prenatal bowel dilatation, neonatal functional obstruction, and reversible intestinal failure: A case report
pubmed · 42318326
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 öffnenIdentification of novel tumor protein 63 variant associated with split-hand/foot malformation and tooth agenesis
pubmed · 42110406
Literaturverweis öffnenMSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient
pubmed · 41927542
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 öffnenNovel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report
pubmed · 36329391
Literaturverweis öffnenHb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis
pubmed · 42267386
Literaturverweis öffnenEpidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta‐analysis
pubmed · 37086676
Literaturverweis öffnenSevere neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
pubmed · 39790720
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
Literaturverweis öffnenExploring Human Papillomavirus 16 Long Control Region Variants in Paraguayan Women: Comparing Variant Diversity to Transcriptional Activity and Cervical Lesion Severity
pubmed · 42416403
Literaturverweis öffnenPhenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants
pubmed · 42347111
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