13 research outputs found
Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1
No full textPrenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay
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Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years
No full textDNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy
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Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion ofRB1 and neighbor genes on chromosome 13q14
No full textStudy of complex structural variations of X-linked deafness-2 based on single-molecule sequencing
No full textPolymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population
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