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Seite 3 für „Variant“ · Literaturverweise aus öffentlichen Artikeln
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DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome
pubmed · 41764803
Literaturverweis öffnenIdentification of novel tumor protein 63 variant associated with split-hand/foot malformation and tooth agenesis
pubmed · 42110406
Literaturverweis öffnenAn atypical variant of congenital bronchoesophageal fistula associated with esophageal atresia and right main bronchial atresia and right lung hypoplasia in a preterm neonate: a case report
pubmed · 42365350
Literaturverweis öffnenHb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis
pubmed · 42267386
Literaturverweis öffnenDecoding causal genes and programs from regulatory variants in aortic valve disease
doi · 10.64898/2026.05.26.727981
Literaturverweis öffnenAcute Capitellum Fracture with Distal Radio-ulnar Joint Disruption: An Atypical Variant of an Essex Lopresti Injury - Case Report
pubmed · 42273419
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 öffnenGQ1b-Positive Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome Presenting With Pseudoathetosis and Pseudodystonia in a 47-Year-Old Filipino Female: A Case Report
pubmed · 40242712
Literaturverweis öffnenFetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation
pubmed · 42158226
Literaturverweis öffnenAdult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly
pubmed · 42220602
Literaturverweis öffnenKcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy
pubmed · 41742307
Literaturverweis öffnenRare variant of median nerve compression: compression by brachial artery false aneurysm combined with carpal tunnel syndrome. Case report and literature review
pubmed · 37011331
Literaturverweis öffnenBiallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter
pubmed · 42357964
Literaturverweis öffnenGermline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
pubmed · 33058759
Literaturverweis öffnenExpanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency
pubmed · 42115487
Literaturverweis öffnenAbnormal C9orf72 frontotemporal dementia behavioural variant presenting as manic psychosis
pubmed · 30654615
Literaturverweis öffnenAtypical femoral fracture: The periprosthetic variant about two cases without bisphosphonate use
pubmed · 42397056
Literaturverweis öffnenExpanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant
pubmed · 40560134
Literaturverweis öffnenOphthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients
pubmed · 41917731
Literaturverweis öffnenA rare variant of oromandibular limb hypogenesis syndrome: a case report of glossopalatal ankylosis
pubmed · 42148452
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 öffnenCorrection to 'Programmed Cell Death 1 Genetic Variant and Liver Damage in Nonalcoholic Fatty Liver Disease'
pubmed · 42387839
Literaturverweis öffnenEndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders
pubmed · 40041282
Literaturverweis öffnenResistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels
pubmed · 42422974
Literaturverweis öffnenA male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia
pubmed · 42204999
Literaturverweis öffnenCerebral palsy: causes, pathways, and the role of genetic variants
pubmed · 26003063
Literaturverweis öffnenA Novel Homozygous MYH2 Variant Causing Early-Onset External Ophthalmoplegia and Proximal Myopathy in a Consanguineous Family
pubmed · 42491855
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
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