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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
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A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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Toward a Differential Diagnosis of Hidden Hearing Loss in Humans
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Development and the epigenome: the 'synapse' of gene-environment interplay.
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In: Developmental science, vol 18, iss 1 (2015)
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Auditory cortical N100 in pre- and post-synaptic auditory neuropathy to frequency or intensity changes of continuous tones.
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In: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, vol 122, iss 3 (2011)
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The developmental potential of the C. elegans RFX transcription factor DAF-19
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