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Cognitive and motor disabilities in children.
Semin Pediatr Neurol. 2012 Dec;19(4):159. doi: 10.1016/j.spen.2012.09.001.
Semin Pediatr Neurol. 2012.
PMID: 23245547
No abstract available.
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J; Undiagnosed Diseases Network.
Cassini TA, et al.
Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25.
Mol Genet Genomic Med. 2019.
PMID: 31020813
Free PMC article.
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