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- Case Studies
- Case Study: C9orf72 Expansion Provides FTD/ALS Diagnosis
- Case Study: CDKL5 Deletion Provides Developmental and Epileptic Encephalopathy 2 Diagnosis
- Case Study: Chr15 UPD Provides Prader-Willi Syndrome Diagnosis
- Case Study: DIP2B Expansion Provides FRA12A Intellectual Disability Diagnosis
- Case Study: DMD Deep Intronic Variant Provides Duchenne Muscular Dystrophy Diagnosis
- Case Study: DMD Inversion Provides Duchenne Muscular Dystrophy Diagnosis
- Case Study: DOK7 Variants Provide DOK7-Related Disorders Diagnosis
- Case Study: FAT4 Variants Provide FAT4-Related Disorders Diagnosis
- Case Study: FGF14 Expansions Provide Spinocerebellar Ataxia 27B Diagnosis
- Case Study: FXN Expansions Provide Friedreich Ataxia Diagnosis
- Case Study: HYLS1 SNV Provides Joubert Syndrome Diagnosis
- Case Study: KLHL40 3’UTR Variant Provides Nemaline Myopathy 8 Diagnosis
- Case Study: KMT2D Indel Provides Kabuki Syndrome Diagnosis
- Case Study: MECP2 Deletion Provides Rett Syndrome Diagnosis
- Case Study: Mitochondrial Deletion Provides Mitochondrial DNA Deletion Syndrome Diagnosis
- Case Study: Overlapping COL18A1 Indels Provide Knobloch Syndrome Diagnosis
- Case Study: PEX1 Deletion Provides Zellweger Spectrum Disorder Diagnosis
- Case Study: PIEZO1 SNVs Provide Lymphatic Malformation Type 6 Diagnosis
- Case Study: RBM8A Variants Provide TAR Syndrome Diagnosis
- Case Study: RFC1 Expansions Provide CANVAS Diagnosis
- Case Study: RIPK4 Deletion Provides Bartsocas-Papas Syndrome Diagnosis
- Case Study: RNU7-1 Variants Provide Aicardi-Goutieres Syndrome 9 Diagnosis
- Case Study: RPL35A Deletion Provides Diamond-Blackfan Anemia Diagnosis
- Case Study: SATB2 Inversion Provides Glass Syndrome Diagnosis
- Case Study: SBDS Splice Variants Provide Shwachman-Diamond Syndrome Diagnosis
- Case Study: SDHB Deletion Provides Hereditary Paraganglioma Syndrome 4 Diagnosis
- Case Study: TH Variants Provide Segawa Syndrome Diagnosis
- Case Study: TLK2 Deletion Provides Intellectual Developmental Disorder 57 Diagnosis
- Case Study: TRIO Deletion Provides Intellectual Developmental Disorder Diagnosis
- Case Study: VPS13A MEI And SNV Provide Chorea-acanthocytosis Diagnosis
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