MONIKA WEISZ HUBSHMAN to Infant
This is a "connection" page, showing publications MONIKA WEISZ HUBSHMAN has written about Infant.
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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.
Score: 0.050
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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.
Score: 0.013
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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: 0.012
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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun; 134(6):577-87.
Score: 0.011