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1.
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Mol Genet Metab
; 125(3): 302-304, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30249361
2.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22290657
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