about
Expanding the genetic heterogeneity of intellectual disability.Confirming the pathogenicity of in early onset epileptic encephalopathyKIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndromeBiallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in HumansGenomic and phenotypic delineation of congenital microcephalySevere Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase DeficiencyTruncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures
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P50
description
researcher ORCID ID = 0000-0001-8324-5203
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wetenschapper
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name
Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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Saud Alsahli
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P106
P31
P496
0000-0001-8324-5203