-
CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study,
Posted on by BMJ in Uncategorized
-
Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants,
Posted on by BMJ in Uncategorized
-
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly,
Posted on by BMJ in Uncategorized
-
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome,
Posted on by BMJ in Uncategorized
-
An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor to Graves’ disease,
Posted on by BMJ in Uncategorized
-
Upregulation of RCAN1 causes Down syndrome-like immune dysfunction,
Posted on by BMJ in Uncategorized
-
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus,
Posted on by BMJ in Uncategorized
-
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency,
Posted on by BMJ in Uncategorized
-
A new gene for childhood-onset pulmonary arterial hypertension,
Posted on by BMJ in Uncategorized
-
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations,
Posted on by BMJ in Uncategorized
