Kate Richardson (Mowrey)

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A De Novo of Autosomal Dominant Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

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Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex

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NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.

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Identification of a novel microdeletion causative of Nance- Horan syndrome

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A De Novo case of autosomal dominant mitochondrial membrane protein- associated neurodegeneration

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Variant Adds to Understanding of Phenotypic Spectrum of Mandibulofacial Dysostosis with Microcephaly

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Germline Mosaicism in Two Sisters with Malan Syndrom

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Three Generations of Females with a Heterozygous Likely Pathogenic Variant in SLC6A8 Causative of X-linked Creatine Transporter Defect

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Pancreatic Neuroendocrine Tumors (PNETs) and Utility of mTOR Inhibitors as a Treatment Option

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Two Generations of TSC: Impact of Early Diagnosis and Interventions

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A De Novo of Autosomal Dominant Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).