Results 161 to 170 of about 72,798 (235)

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report. [PDF]

open access: yesTransl Pediatr
Dantsev IS   +9 more
europepmc   +1 more source

Jordans' anomaly in Chanarin-Dorfman syndrome. [PDF]

open access: yesAdv Lab Med
Sánchez-Cortés J, Gabaldó-Barrios X.
europepmc   +1 more source

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears. [PDF]

open access: yes, 2018
Fackler, Nathan   +4 more
core  

Protocol for the Development of a Core Outcome Set for Inherited Ichthyosis.

open access: yesDermatology
Rossel SVJ   +7 more
europepmc   +1 more source

Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]

open access: yesMol Genet Genomic Med
Salo M   +3 more
europepmc   +1 more source

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