Results 81 to 90 of about 3,708 (168)

Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing. [PDF]

open access: yesBlood Sci
Zhang A   +9 more
europepmc   +1 more source

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result. [PDF]

open access: yesEur J Pediatr
Rossell A   +7 more
europepmc   +1 more source

Mending the Achilles heels of titin in cardiac and musculoskeletal disease. [PDF]

open access: yesBiophys Rev
Martinez-Martin I   +2 more
europepmc   +1 more source

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene. [PDF]

open access: yesPediatr Dermatol
Sánchez-Espino LF   +5 more
europepmc   +1 more source

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