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Artikel 100001 C.655C&gt;T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis
Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 335-341. 7 S.
Online Ressource
Artikel 100002 Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye
Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 327-334. 8 S.
Online Ressource
Artikel 100003 Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience
Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 320-326. 7 S.
Online Ressource
Artikel 100004 High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene
Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 311-319. 9 S.
Online Ressource
Artikel 100005 A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 291-310. 20 S.
Online Ressource
Artikel 100006 Precut Papillotomy versus EUS-Guided Rendezvous in Difficult Biliary Cannulation for Malignant Distal Biliary Obstruction: Time to Think Outside the Box?
Enthalten in Journal of Digestive Endoscopy Bd. 16, 2025, Nr. 04: 241-244
Online Ressource
Artikel 100007 Eosinophilic Esophagitis in India: A Rare or Underdiagnosed Entity?
Enthalten in Journal of Digestive Endoscopy Bd. 16, 2025, Nr. 04: 239-240
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Artikel 100008 Practical Applications of Endoscopic Ultrasound-Guided Elastography: Core Principles, Techniques, and Pitfalls
Enthalten in Journal of Digestive Endoscopy Bd. 16, 2025, Nr. 04: 220-228
Online Ressource
Artikel 100009 Conceptualising children’s linguistic rights in formal education in Greece
Enthalten in Applied linguistics review Bd. 16, 2025, Nr. 3: 1429-1448. 20 S.
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Artikel 100010 Language teaching in the 21st century: incorporating culturally sustaining pedagogies for social and cognitive justice in education
Enthalten in Applied linguistics review Bd. 16, 2025, Nr. 3: 1403-1427. 25 S.
Online Ressource


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