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American Journal of Medical Genetics. Part A|October 15, 2024
KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual DevelopmentTessa Gonzalez, Rebecca C Tyler, Kala F Schilter, et al.Human Genetics|September 27, 2019
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorderVolkan Okur, Katrin Watschinger, Dmitriy Niyazov, et al.American Journal of Medical Genetics. Part A|December 7, 2023
Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variantWilliam Scott, Ian Guo Yi Wong, Jesse Cramer, et al.Journal of Neuropathology and Experimental Neurology|February 5, 2019
Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular DystrophyDaniel C Helbling, David Mendoza, Julie McCarrier, et al.Congenital Heart Disease|July 19, 2016
Bacteremia in Patients with Heterotaxy: A Review and Implications for ManagementRohit S Loomba, Gabrielle C Geddes, Donald Basel, et al.Genes|July 27, 2022
Novel Genetic Diagnoses in Septo-Optic DysplasiaLinda M Reis, Sarah Seese, Mohit Maheshwari, et al.Life (Basel, Switzerland)|March 28, 2024
Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth SyndromesNikita R Dsouza, Catherine E Cottrell, Olivia M T Davies, et al.International Journal of Pediatrics|December 19, 2013
Adaptive behavior in young children with neurofibromatosis type 1Bonita P Klein-Tasman, Alina M Colon, Natalie Brei, et al.BMC Infectious Diseases|July 3, 2024
Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 - implications for post COVID-19 conditionsGulrayz Ahmed, Yasir Abdelgadir, Amro Abdelghani, et al.Prenatal Diagnosis|July 7, 2015
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomaliesChristina L Alamillo, Zöe Powis, Kelly Farwell, et al.Pageof 6