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Evidence for genetic anticipation in von Hippel-Lindau syndrome,
Posted on by BMJ in Uncategorized
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Risk category system to identify pituitary adenoma patients with AIP mutations,
Posted on by BMJ in Uncategorized
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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome),
Posted on by BMJ in Uncategorized
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Catalogue of inherited disorders found among the Irish Traveller population,
Posted on by BMJ in Uncategorized
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A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews,
Posted on by BMJ in Uncategorized
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DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing,
Posted on by BMJ in Uncategorized
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Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility,
Posted on by BMJ in Uncategorized
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Gene editing as a promising approach for respiratory diseases,
Posted on by BMJ in Uncategorized
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Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country,
Posted on by BMJ in Uncategorized
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Cole-Carpenter syndrome due to recurrent P4HB variant,
Posted on by BMJ in Uncategorized
