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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14geneChoosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should questionChallenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)Genetic counselors' preferences for coverage of preimplantation genetic diagnosis: A discrete choice experimentActivating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
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description
researcher ORCID ID = 0000-0002-2477-1665
@en
wetenschapper
@nl
name
Elaine S Goh
@ast
Elaine S Goh
@en
Elaine S Goh
@nl
type
label
Elaine S Goh
@ast
Elaine S Goh
@en
Elaine S Goh
@nl
prefLabel
Elaine S Goh
@ast
Elaine S Goh
@en
Elaine S Goh
@nl
P31
P496
0000-0002-2477-1665