Results 121 to 130 of about 13,759 (208)

Circular 104 [PDF]

open access: yes, 1995
Grover, Ray Jr   +3 more
core  

Biallelic <i>CRELD1</i> variants cause severe muscle weakness and infantile epilepsy. [PDF]

open access: yesBrain Commun
D'Alessandro M   +13 more
europepmc   +1 more source

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT). [PDF]

open access: yesMol Genet Genomic Med
Bellardita M   +19 more
europepmc   +1 more source

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