Výsledky vyhledávání - Melissa A. Parisi

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  1. 1
    Clinical and molecular features of Joubert syndrome and related disorders

    Clinical and molecular features of Joubert syndrome and related disorders Autor Melissa A. Parisi

    Vydáno 2009
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  2. 2
    AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

    AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome Autor Melissa A. Parisi

    Vydáno 2005
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  3. 3
    The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

    The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity Autor Melissa A. Parisi

    Vydáno 2019
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  4. 4
    A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HMG-box protein both in vivo and in vitro.

    A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HMG-box protein both in vivo and in vitro. Autor Melissa A. Parisi, Baoji Xu, David A. Clayton

    Vydáno 1993
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  5. 5
    Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1.

    Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1. Autor Robert P. Fisher, Melissa A. Parisi, David A. Clayton

    Vydáno 1989
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  6. 6
    Joubert syndrome (and related disorders) (OMIM 213300)

    Joubert syndrome (and related disorders) (OMIM 213300) Autor Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian Glass

    Vydáno 2007
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  7. 7
    DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein.

    DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein. Autor Robert P. Fisher, Thomas Lisowsky, Melissa A. Parisi, David A. Clayton

    Vydáno 1992
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  8. 8
    We don't know what we don't study: The case for research on medication effects in pregnancy

    We don't know what we don't study: The case for research on medication effects in pregnancy Autor Melissa A. Parisi, Catherine Y. Spong, Anne Zajicek, Alan E. Guttmacher

    Vydáno 2011
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  9. 9
    The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

    The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome Autor Melissa A. Parisi, Mary Beth Dinulos, Kathleen A. Leppig, Virginia P. Sybert, Charis Eng, L. Hudgins

    Vydáno 2001
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  10. 10
    Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas

    Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas Autor Azra H. Ligon, Steven D.P. Moore, Melissa A. Parisi, Matthew E. Mealiffe, David J. Harris, Heather Ferguson, Bradley J. Quade, Cynthia C. Morton

    Vydáno 2005
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  11. 11
    The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

    The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome Autor Melissa A. Parisi, Craig L. Bennett, Melissa Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis Shaw, Ruth McDonald, Allison A. Eddy, Phillip F. Chance, Ian Glass

    Vydáno 2004
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  12. 12
    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome

    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome Autor Josiane Hélou, Edgar A. Otto, Massimo Attanasio, S. J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, S. Hashmi, Elisa Fazzi, Heymut Omran, John F. O’Toole, John A. Sayer, Friedhelm Hildebrandt

    Vydáno 2007
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  13. 13
    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center Autor Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun

    Vydáno 2018
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  14. 14
    A Gender Assessment Team: experience with 250 patients over a period of 25 years

    A Gender Assessment Team: experience with 250 patients over a period of 25 years Autor Melissa A. Parisi, Linda Ramsdell, Mark W. Burns, Michael C. Carr, Richard Grady, Daniel F. Gunther, Gadi B. Kletter, Elizabeth McCauley, Michael Mitchell, Kent E. Opheim, Catherine Pihoker, Gail E. Richards, Michael R. Soules, Roberta A Pagon

    Vydáno 2007
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  15. 15
    Are we prepared to deliver gene‐targeted therapies for rare diseases?

    Are we prepared to deliver gene‐targeted therapies for rare diseases? Autor Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi C. MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Philip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv

    Vydáno 2023
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  16. 16
    Prospective Evaluation of Kidney Disease in Joubert Syndrome

    Prospective Evaluation of Kidney Disease in Joubert Syndrome Autor Leah R. Fleming, Daniel Doherty, Melissa A. Parisi, Ian Glass, Joy Bryant, Roxanne Fischer, Barış Türkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay‐Aygun

    Vydáno 2017
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  17. 17
    Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

    Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center Autor Thierry Vilboux, Dan Doherty, Ian Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih M. Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, William A. Gahl, Meral Gunay‐Aygun

    Vydáno 2017
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  18. 18
    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) Autor D Doherty, Melissa A. Parisi, Laura S. Finn, Meral Gunay‐Aygun, Majeed Al-Mateen, Daniel Bates, Carol L. Clericuzio, Hülya Demır, Michael O. Dorschner, Anthonie J. van Essen, William A. Gahl, Mattia Gentile, Nicholas T. Gorden, Abigail Hikida, Dana Knutzen, Hamìt Özyürek, Ian G. Phelps, Phillip Rosenthal, Alain Verloès, Heike Weigand, P. F. Chance, William B. Dobyns, Ian Glass

    Vydáno 2009
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  19. 19
    Healthcare recommendations for Joubert syndrome

    Healthcare recommendations for Joubert syndrome Autor Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D’Arrigo, Ian Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay‐Aygun, Enza Maria Valente, Dan Doherty

    Vydáno 2019
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  20. 20
    MKS1 regulates ciliary INPP5E levels in Joubert syndrome

    MKS1 regulates ciliary INPP5E levels in Joubert syndrome Autor Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen Duran, Jonathan Adkins, Sairam A Kumar, Dana Knutzen, Nine Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

    Vydáno 2015
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