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Seite 1 für „variants“ · Literaturverweise aus öffentlichen Artikeln
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Blood-Based Analysis of Different Tau Variants in Patients With Multiple Traumatic Injuries
pubmed · 41665901
Literaturverweis öffnenBlended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report
pubmed · 42377900
Literaturverweis öffnenResistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels
pubmed · 42422974
Literaturverweis öffnenConsensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
pubmed · 31160754
Literaturverweis öffnenGenetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation
pubmed · 42365546
Literaturverweis öffnenCongenital Variants and Anomalies of the Aortic Arch
pubmed · 27860551
Literaturverweis öffnenPCG with biallelic CYP1B1 and CPAMD8 variants: a longitudinal case report
pubmed · 42528638
Literaturverweis öffnenCase Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese family
pubmed · 37035731
Literaturverweis öffnen[On the history of the concept neurasthenia and its modern variants chronic-fatigue-syndrome, fibromyalgia and multiple chemical sensitivities].
pubmed · 12410427
Literaturverweis öffnenGastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants
pubmed · 42223171
Literaturverweis öffnenPOLR3A 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 öffnenDecoding causal genes and programs from regulatory variants in aortic valve disease
doi · 10.64898/2026.05.26.727981
Literaturverweis öffnenD e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy
pubmed · 40967764
Literaturverweis öffnenGermline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
pubmed · 33058759
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 öffnenCase series: Arterial tortuosity syndrome confirmed by homozygous SLC2A10 variants
pubmed · 42253865
Literaturverweis öffnenBiallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter
pubmed · 42357964
Literaturverweis öffnenExpanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency
pubmed · 42115487
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 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 öffnenEndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders
pubmed · 40041282
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