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American Journal of Medical Genetics. Part A|November 12, 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patientsClémence Jacquin, Emilie Landais, Céline Poirsier, et al.
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Cancer Cell|April 13, 2021
Therapeutic targeting of ATR yields durable regressions in small cell lung cancers with high replication stressAnish Thomas, Nobuyuki Takahashi, Vinodh N Rajapakse, et al.
Nature Communications|April 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsManon Baudic, Hiroshige Murata, Fernanda M Bosada, et al.
Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.
Sensors (Basel, Switzerland)|July 8, 2023
Li2100deplMoO4 Scintillating Bolometers for Rare-Event Search ExperimentsIulian C Bandac, Alexander S Barabash, Laurent Bergé, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature reviewMarie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
Circulation|October 11, 2024
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in ThailandRoddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli, et al.
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