Frances P. Velez-Bartolomei
Medical Genetics | Pediatrics
300 Pasteur Dr # H-315
Stanford, CA 94305
Stanford, CA 94305
Last Updated: 09/26/2026
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Found 6 publications
Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome).
Journal: The Journal of bone and joint surgery. American volume
Published: December 21, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Journal: Prenatal diagnosis
Published: March 31, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Journal: Journal of inherited metabolic disease
Published: June 09, 2022
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Journal: American journal of medical genetics. Part A
Published: February 19, 2021
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Journal: Pediatric neurology
Published: July 13, 2020
Showing 1-6 of 6
Last Updated: 09/26/2026