Results 91 to 100 of about 5,197 (132)

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. [PDF]

open access: yesNat Commun
Kobren SN   +18 more
europepmc   +1 more source

Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank. [PDF]

open access: yesJ Am Med Inform Assoc
Zeng C   +6 more
europepmc   +1 more source

First microscopic and molecular identification of Cryptosporidium spp. in fat sand rats (Psammomys obesus) in Egypt and their potential zoonotic implications. [PDF]

open access: yesFront Vet Sci
Mohamed SA   +9 more
europepmc   +1 more source

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. [PDF]

open access: yesGenet Med
Huang Y   +27 more
europepmc   +1 more source

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia. [PDF]

open access: yesHum Mol Genet
Hoang HD   +28 more
europepmc   +1 more source

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