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Journal of Intensive Medicine|February 14, 2023
Awake prone positioning for patients with COVID-19-induced acute hypoxemic respiratory failureYonatan Perez, Jian Luo, Miguel Ibarra-Estrada, et al.Biomed Research International|November 10, 2017
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous CarriersYonatan Perez, Ohad Wormser, Yair Sadaka, et al.American Journal of Medical Genetics. Part A|December 12, 2017
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansionIdan Cohen, Orna Staretz-Chacham, Ohad Wormser, et al.Journal of Pediatric Hematology/Oncology|August 21, 2018
Malignant Peritoneal Mesothelioma in an Infant With Familial ATM MutationsAnalia Mijalovsky, Daniel Halperin, Yonatan Perez, et al.Human Mutation|August 6, 2017
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delayRegina Proskorovski-Ohayon, Rotem Kadir, Analia Michalowski, et al.Brain : a Journal of Neurology|February 5, 2019
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafishYonatan Perez, Reut Bar-Yaacov, Rotem Kadir, et al.Journal of Medical Genetics|November 8, 2015
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCNYonatan Perez, Rotem Kadir, Michael Volodarsky, et al.European Journal of Human Genetics : EJHG|September 19, 2013
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutationYonatan Perez, Libe Gradstein, Hagit Flusser, et al.Science (New York, N.Y.)|May 18, 2019
Single-cell genomics identifies cell type-specific molecular changes in autismDmitry Velmeshev, Lucas Schirmer, Diane Jung, et al.European Journal of Human Genetics : EJHG|July 18, 2013
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferaseIdan Cohen, Eldad Silberstein, Yonatan Perez, et al.Pageof 5