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American Journal of Medical Genetics. Part A|January 7, 2022
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variantLé Shon Peart, Joanna Gonzalez, Stephanie Bivona, et al.Journal of Genetic Counseling|March 2, 2019
Challenges of infertility genetic counseling: Impact on counselors' personal and professional livesKarina Liker, Lauri Black, Jon Weil, et al.Journal of Medical Genetics|December 6, 2024
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3Nicholas A Borja, Mohammad Faraz Zafeer, Stephanie Bivona, et al.Molecular Genetics & Genomic Medicine|March 5, 2022
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic diseaseNicholas Borja, Stephanie Bivona, Lé Shon Peart, et al.American Journal of Medical Genetics. Part A|March 29, 2023
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndromeNicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, et al.American Journal of Human Genetics|March 15, 2025
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptomsAli H Bereshneh, Jonathan C Andrews, Daniel F Eberl, et al.Advanced Genetics (Hoboken, N.J.)|December 30, 2024
Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing LossMaria T Bernardi, Memoona Ramzan, Laura Calderon, et al.American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.Pageof 1