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100001 - 100010 von 6760116

	100001	Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 390-396. 7 S.
	100002	A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 384-389. 6 S.
	100003	Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 374-383. 10 S.
	100004	A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 366-373. 8 S.
	100005	Cerebrotendinous Xanthomatosis Disease Prevalence in Patients with Autism Spectrum Disorder: A Prospective Observational Study Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 354-365. 12 S.
	100006	Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 342-353. 12 S.
	100007	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.
	100008	Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 4: 327-334. 8 S.
	100009	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.
	100010	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.