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Molecular Genetics and Metabolism|March 13, 2012
Expert recommendations for the laboratory diagnosis of MPS VIT Wood, O A Bodamer, M G Burin, et al.Journal of Inherited Metabolic Disease|July 3, 2010
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophyOsvaldo Artigalás, Valeska Lizzi Lagranha, Maria Luiza Saraiva-Pereira, et al.International Journal of Biological Macromolecules|May 13, 2017
A new l-amino acid oxidase from Bothrops jararacussu snake venom: Isolation, partial characterization, and assessment of pro-apoptotic and antiprotozoal activitiesSante E I Carone, Tássia R Costa, Sandra M Burin, et al.Progress in Retinal and Eye Research|October 24, 2022
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approachesAlejandra Daruich, Melinda Duncan, Matthieu P Robert, et al.Genes|August 25, 2019
One <i>NF1</i> Mutation may Conceal AnotherLaurence Pacot, Cyril Burin des Roziers, Ingrid Laurendeau, et al.Human Genetics|August 8, 2022
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1Laurence Pacot, Valerie Pelletier, Albain Chansavang, et al.The Journal of Clinical Endocrinology and Metabolism|December 13, 2021
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing VariantThomas Huby, Edouard Le Guillou, Cyril Burin des Roziers, et al.JIMD Reports|March 14, 2022
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophyFrancyne Kubaski, Zackary M Herbst, Maira Graeff Burin, et al.Arquivos De Neuro-Psiquiatria|December 20, 2016
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndromeJonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, et al.Orphanet Journal of Rare Diseases|April 24, 2025
Analysis of genomic ancestry and characterization of a new variant in MPS type VIIAndreza Juliana Moreira da Costa, Isabel Cristina Neves de Souza, Raimunda Helena Feio, et al.Pageof 39