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You searched for: Author/Creator Sadaka, Yair

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1. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. (8th October 2017)

2. CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. (November 2015)

3. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. (10th September 2015)

5. Home-quarantine during the initial Covid-19 outbreak in Israel: parent perceived impact on children with ASD. Issue 6 (June 2022)

6. MYORG is associated with recessive primary familial brain calcification. Issue 1 (15th November 2018)