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UnknownIdentification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Not available
S-EPMC3638942 | biostudies-literature
UnknownMutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Not available
S-EPMC4970687 | biostudies-literature
UnknownEfficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Not available
S-EPMC4215287 | biostudies-literature
UnknownComplete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Not available
S-EPMC3125325 | biostudies-literature
UnknownImpact of targeted hypothermia in expanded-criteria organ donors on recipient kidney-graft function: study protocol for a multicentre randomised controlled trial (HYPOREME).
Not available
S-EPMC8961135 | biostudies-literature
UnknownEchocardiographic evidence for valvular toxicity of benfluorex: a double-blind randomised trial in patients with type 2 diabetes mellitus.
Not available
S-EPMC3378581 | biostudies-literature
UnknownEffect of Convalescent Plasma on Organ Support-Free Days in Critically Ill Patients With COVID-19: A Randomized Clinical Trial.
Not available
S-EPMC8491132 | biostudies-literature
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