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A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
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- Molecular Syndromology, 2021, v. 12, n. 5, p. 327, doi. 10.1159/000516606
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- Article
Long-Term Survival in a Child With Arthrogryposis Multiplex Congenita and Spinal Muscular Atrophy.
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- Journal of Child Neurology, 2001, v. 16, n. 12, p. 934, doi. 10.1177/088307380101601213
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- Article
Impact of daytime routine modifications on people with severe intellectual disability amid COVID‐19 pandemic.
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- Perspectives in Psychiatric Care, 2021, v. 57, n. 3, p. 1536, doi. 10.1111/ppc.12696
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- Article