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S Mancini

Showing results (241-250 of 347) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Molecular Genetics and Metabolism|November 9, 2005
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiencyM C Y de Wit, I F M de Coo, E Verbeek, et al.
Neurobiology of Disease|July 19, 2005
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulatedNatalia Yarovaya, Rachel Schot, Lisa Fodero, et al.
Neurology|February 5, 2016
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesiaGrazia M S Mancini, Rachel Schot, Marie Claire Y de Wit, et al.
Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.
Acta Neuropathologica Communications|July 6, 2019
Loss of USP18 in microglia induces white matter pathologyMarius Schwabenland, Omar Mossad, Adam G Peres, et al.
Neurogenetics|March 20, 2008
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiencyOfir T Betsalel, Jiddeke M van de Kamp, Cristina Martínez-Muñoz, et al.
Acta Neuropathologica|May 13, 2018
Aging alters the immunological response to ischemic strokeRodney M Ritzel, Yun-Ju Lai, Joshua D Crapser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2015
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literatureMarije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, et al.
Pageof 35

Showing results (241-250 of 347) with videos related to

Sort By:
Pageof 35
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Human Genetics|December 20, 2022
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopmentDaphne J Smits, Jordy Dekker, Rachel Schot, et al.
Molecular Genetics and Metabolism|November 9, 2005
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiencyM C Y de Wit, I F M de Coo, E Verbeek, et al.
Neurobiology of Disease|July 19, 2005
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulatedNatalia Yarovaya, Rachel Schot, Lisa Fodero, et al.
Neurology|February 5, 2016
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesiaGrazia M S Mancini, Rachel Schot, Marie Claire Y de Wit, et al.
Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.
Acta Neuropathologica Communications|July 6, 2019
Loss of USP18 in microglia induces white matter pathologyMarius Schwabenland, Omar Mossad, Adam G Peres, et al.
Neurogenetics|March 20, 2008
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiencyOfir T Betsalel, Jiddeke M van de Kamp, Cristina Martínez-Muñoz, et al.
Acta Neuropathologica|May 13, 2018
Aging alters the immunological response to ischemic strokeRodney M Ritzel, Yun-Ju Lai, Joshua D Crapser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2015
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literatureMarije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, et al.
Pageof 35