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100001 - 100010 von 6760099

	100001	Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 342-353. 12 S.
	100002	C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 335-341. 7 S.
	100003	Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 327-334. 8 S.
	100004	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.
	100005	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.
	100006	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.
	100007	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
	100008	Eosinophilic Esophagitis in India: A Rare or Underdiagnosed Entity? Enthalten in Journal of Digestive Endoscopy Bd. 16, 2025, Nr. 04: 239-240
	100009	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
	100010	Conceptualising children’s linguistic rights in formal education in Greece Enthalten in Applied linguistics review Bd. 16, 2025, Nr. 3: 1429-1448. 20 S.