檢索結果 - Grazia M.S. Mancini

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  1. 1
    Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

    Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. 由 Grazia M.S. Mancini, Cecile Beerens, Perttì Aula, F.W. Verheijen

    出版 1991
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  2. 2
    Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane

    Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane 由 Grazia M.S. Mancini, Hugo R. de Jonge, H. Galjaard, F.W. Verheijen

    出版 1989
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  3. 3
    Subcortical heterotopic gray matter brain malformations

    Subcortical heterotopic gray matter brain malformations 由 Renske Oegema, A. James Barkovich, Grazia M.S. Mancini, Renzo Guerrini, William B. Dobyns

    出版 2019
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  4. 4
    Mechanisms of Copper Incorporation into Human Ceruloplasmin

    Mechanisms of Copper Incorporation into Human Ceruloplasmin 由 Nathan E. Hellman, Satoshi Kono, Grazia M.S. Mancini, A. Jeannette M. Hoogeboom, G.J. de Jong, Jonathan D. Gitlin

    出版 2002
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  5. 5
    The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

    The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation 由 Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans W. Verheijen, Grazia M.S. Mancini, Jan‐Eric Månsson, Perttì Aula, Leena Peltonen

    出版 2000
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  6. 6
    COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

    COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke 由 Marion Jeanne, Cassandre Labelle‐Dumais, Jeff Jorgensen, W. Berkeley Kauffman, Grazia M.S. Mancini, Jack Favor, Valerie Valant, Steven M. Greenberg, Jonathan Rosand, Douglas B. Gould

    出版 2011
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  7. 7
    Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors 由 Cathryn Poulton, Rachel Schot, Sima Kheradmand Kia, Marta Jones, Frans W. Verheijen, Hanka Venselaar, Marie‐Claire Y. de Wit, Esther de Graaff, Aida M. Bertoli‐Avella, Grazia M.S. Mancini

    出版 2011
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  8. 8
    Magnetic resonance imaging pattern recognition in hypomyelinating disorders

    Magnetic resonance imaging pattern recognition in hypomyelinating disorders 由 Marjan E. Steenweg, Adeline Vanderver, Susan Blasér, Alberto Bizzi, Tom J. de Koning, Grazia M.S. Mancini, Wessel N. van Wieringen, Frederik Barkhof, Nicole I. Wolf, Marjo S. van der Knaap

    出版 2010
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  9. 9
    Definitions and classification of malformations of cortical development: practical guidelines

    Definitions and classification of malformations of cortical development: practical guidelines 由 Mariasavina Severino, Ana Filipa Geraldo, Norbert Utz, Domenico Tortora, Ivana Pogledić, Włodzimierz Klonowski, Fabio Triulzi, Filippo Arrigoni, Kshitij Mankad, Richard J. Leventer, Grazia M.S. Mancini, James Barkovich, Maarten H. Lequin, Andrea Rossi

    出版 2020
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    Revisão
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  10. 10
    Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

    Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females 由 Eric D. Marsh, Carl T. Fulp, Ernest Gomez, Ilya M. Nasrallah, Jeremy Minarcik, Jyotsna Sudi, Susan L. Christian, Grazia M.S. Mancini, Patricia A. Labosky, William B. Dobyns, Amy R. Brooks‐Kayal, Jeffrey A. Golden

    出版 2009
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  11. 11
    Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia

    Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia 由 Ana Uzquiano, Carmen Cifuentes-Díaz, Ammar Jabali, Delfina M. Romero, Anne Houllier, Florent Dingli, Camille Maillard, Anne Boland, Jean‐François Deleuze, Damarys Loew, Grazia M.S. Mancini, Nadia Bahi‐Buisson, Julia Ladewig, Fiona Francis

    出版 2019
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  12. 12
    The clinical spectrum of complete FBN1 allele deletions

    The clinical spectrum of complete FBN1 allele deletions 由 Yvonne Hilhorst‐Hofstee, Ben C.J. Hamel, Joanne Verheij, M Rijlaarsdam, Grazia M.S. Mancini, Jan M. Cobben, Cindy Giroth, Claudia AL Ruivenkamp, Kerstin Hansson, Janneke Timmermans, Henriëtte A. Moll, Martijn H. Breuning, Gerard Pals

    出版 2010
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  13. 13
    Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

    Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome 由 Raffaella De Pace, Miguel Skirzewski, Markus Daμμe, Rafael Mattera, Jeffrey Mercurio, Arianne M. Foster, Loreto Cuitiño, Michal Jarník, Victoria Hoffmann, H Douglas Morris, Tae‐Un Han, Grazia M.S. Mancini, Andrés Buonanno, Juan S. Bonifacino

    出版 2018
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  14. 14
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis 由 Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    出版 2016
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  15. 15
    COL4A2 mutation associated with familial porencephaly and small-vessel disease

    COL4A2 mutation associated with familial porencephaly and small-vessel disease 由 Elly Verbeek, Marije Meuwissen, Frans W. Verheijen, Paul Govaert, Daniel J. Licht, Debbie S. Kuo, Cathryn Poulton, Rachel Schot, Maarten H. Lequin, Jeroen Dudink, Dicky Halley, I.F.M. de Coo, Jan C. den Hollander, Renske Oegema, Douglas B. Gould, Grazia M.S. Mancini

    出版 2012
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  16. 16
    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome 由 Paul Coucke, Andy Willaert, Marja W. Wessels, Bert Callewaert, Nicoletta Zoppi, Julie De Backer, Joyce E. Fox, Grazia M.S. Mancini, Marios Kambouris, Rita Gardella, Fabio Facchetti, Patrick J. Willems, Ramses Forsyth, Harry C. Dietz, Sergio Barlati, Marina Colombi, Bart Loeys, Anne De Paepe

    出版 2006
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  17. 17
    Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect

    Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect 由 Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, I.F.M. de Coo, J. G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M.S. Mancini

    出版 2011
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  18. 18
    XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

    XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia 由 Nícolas C. Hoch, Hana Hanzlíková, Stuart L. Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, P. Hornyak, Zhihong Zeng, William H. Gittens, Stéphanie Rey, Kevin Staras, Grazia M.S. Mancini, Peter J. McKinnon, Zhao‐Qi Wang, Justin D. Wagner, Grace Yoon, Keith W. Caldecott

    出版 2016
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  19. 19
    RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

    RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex 由 Sima Kheradmand Kia, Elly Verbeek, Erik Engelen, Rachel Schot, Raymond A. Poot, I.F.M. de Coo, Maarten H. Lequin, Cathryn Poulton, Farzin Pourfarzad, Frank Grosveld, António Brehm, Marie‐Claire Y. de Wit, Renske Oegema, William B. Dobyns, Frans W. Verheijen, Grazia M.S. Mancini

    出版 2012
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  20. 20
    The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21

    The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21 由 Nazneen Rahman, Melanie Dunstan, M. Dawn Teare, Sandra Hanks, Sarah Edkins, Jaime Hughes, Graham R. Bignell, Grazia M.S. Mancini, Wim J. Kleijer, Mary Ellen Campbell, Gökhan Keser, Carol M. Black, Nigel Williams, Laura Arbour, Matthew L. Warman, Andrea Superti‐Furga, P. Andrew Futreal, F. Michael Pope

    出版 2002
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