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100001 - 100010 von 6760225

	100001	A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2 Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 507-516. 9 S.
	100002	A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Huët Anomaly Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 498-506. 9 S.
	100003	Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 489-497. 9 S.
	100004	Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 476-488. 13 S.
	100005	A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 469-475. 7 S.
	100006	A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 461-468. 8 S.
	100007	Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 449-460. 12 S.
	100008	Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 442-448. 7 S.
	100009	Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 436-441. 6 S.
	100010	Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant Enthalten in Molecular syndromology Bd. 16, 2025, Nr. 5: 429-435. 7 S.