Clinical genetics and therapeutics

360 - The clinical features and genotypes of neurofibromatosis type 1 patients with NF1 microdeletions

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359 - Novel DOCK7 Pathogenic Variants in Three Siblings with Epileptic Encephalopathy, Cortical Visual Impairment, and Structural Brain Abnormalities

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363 - Natural History of Achondroplasia: a Retrospective Study of Patients Managed by a Multispecialty Program.
368 - Oral Chelation Therapy to Treat HypermanganesemiaOral Chelation Therapy to Treat Hypermanganesemia
369 - Novel Deleterious ACBD5 Gene Variant Associated with Optic Atrophy, White Matter Disease, and Psychomotor Regression: Case Report and Literature Review
370 - Genetic Findings in Patients Presenting with Childhood Apraxia of Speech
374 - Molecular Genetic Studies with SNP Arrays and WES in 20 Patients with  Microphthalmia, Anophthalmia and Coloboma (MAC) from Pakistan
375 - CATWOMAN Subtype of Catel-Manzke Syndrome:  Catel-Manzke Syndrome Without Manzke Dysostosis
378 - Clinical Presentation of SMARCA4-Related Coffin-Siris Syndrome – An Additional 29 Cases
381 - Approaches to Secondary Findings Across the Clinical Sequencing Evidence-Generating Research (CSER) Consortium
382 - Elevated Incidence of Microphthalmia in Chuuk, FSM--a Mystery Solved?
383 - A High Carrier Frequency of WFS1 R558C Variant of 2.5%, Associated with Wolfram Syndrome, in the Ashkenazi Jewish Population