MONIKA WEISZ HUBSHMAN to Male
This is a "connection" page, showing publications MONIKA WEISZ HUBSHMAN has written about Male.
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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. Eur J Paediatr Neurol. 2019 May; 23(3):418-426.
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Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis. Clin Genet. 2017 Jun; 91(6):902-907.
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Detection of copy number variations in epilepsy using exome data. Clin Genet. 2018 03; 93(3):577-587.
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A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. Eur J Paediatr Neurol. 2018 May; 22(3):516-524.
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Is one diagnosis the whole story? patients with double diagnoses. Am J Med Genet A. 2016 09; 170(9):2338-48.
Score: 0.004
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Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones. Blood Cells Mol Dis. 2016 09; 60:65-72.
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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun; 134(6):577-87.
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