Publications by authors named "Maria Jose Coll"

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Maria Jose Coll

Orphanet J Rare Dis· February 2022

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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, Susanna Lualdi, Laura Gort, Maria Jose Coll

Hum Mutat· February 2016

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Gene symbol: IDS. Disease: Mucopolysaccharidosis II.
Ana María Oller Ramirez, María José Coll, Amparo Chabás, Nydia Beatríz Azar, Addy Vanina Ghio

Hum Genet· June 2008

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Gene symbol: IDS. Disease: Hunter syndrome.
Ana María Oller Ramirez, María José Coll, Amparo Chabás, Nydia Beatríz Azar, Addy Vanina Ghio

Hum Genet· June 2008

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