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Biochimica Et Biophysica Acta|April 8, 2014
Oncofetal H19 RNA promotes tumor metastasisImad J Matouk, Eli Raveh, Rasha Abu-lail, et al.
Blood|November 15, 2012
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathyYoram Nevo, Bruria Ben-Zeev, Adi Tabib, et al.
Human Mutation|June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSFCsilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.
European Journal of Human Genetics : EJHG|September 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorderAsier Iturrate, Nurit Assia Batzir, Ranit Jaron, et al.
European Journal of Neurology|December 22, 2021
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemiaLiat Salzer-Sheelo, Avi Fellner, Naama Orenstein, et al.
Brain : a Journal of Neurology|July 17, 2015
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorderAlexander Lossos, Nimrod Elazar, Israela Lerer, et al.
Annals of Neurology|April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.
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