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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersBiallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish populationBi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyHomozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderA de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patientPhenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
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description
investigador
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researcher
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name
Daniel L Polla
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type
label
Daniel L Polla
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prefLabel
Daniel L Polla
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P496
0000-0002-5552-3488