检索结果 - Meral Gunay‐Aygun

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  1. 1
    Liver and kidney disease in ciliopathies

    Liver and kidney disease in ciliopathies 由 Meral Gunay‐Aygun

    出版 2009
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  2. 2
    Molecular Defects that Affect Platelet Dense Granules

    Molecular Defects that Affect Platelet Dense Granules 由 Meral Gunay‐Aygun, Marjan Huizing, William A. Gahl

    出版 2004
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  3. 3
    Hypertrophic Cardiomyopathy: How Far Should We Go With Genetic Testing?

    Hypertrophic Cardiomyopathy: How Far Should We Go With Genetic Testing? 由 Fahrner, Jill A., Anne M., Murphy, Meral, Gunay-Aygun

    出版 2012
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  4. 4
    The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

    The α‐granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome 由 Dawn Maynard, Harry F.G. Heijnen, William A. Gahl, Meral Gunay‐Aygun

    出版 2010
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  5. 5
    Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

    Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics 由 Marjan Huizing, Amanda Helip‐Wooley, Wendy Westbroek, Meral Gunay‐Aygun, William A. Gahl

    出版 2008
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  6. 6
    Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

    Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease 由 Meral Gunay‐Aygun, Baris I. Turkbey, Joy Bryant, Kailash T. Daryanani, Maya T. Gerstein, Katie Piwnica–Worms, Peter L. Choyke, Theo Heller, William A. Gahl

    出版 2011
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  7. 7
    Genetic basis of cystinosis in Turkish patients: a single-center experience

    Genetic basis of cystinosis in Turkish patients: a single-center experience 由 Rezan Topaloĝlu, Thierry Vilboux, Turgay Coşkun, Fatih Özaltın, Brad Tinloy, Meral Gunay‐Aygun, Ayşı̇n Bakkaloğlu, Nesrin Beşbaş, Lambert van den Heuvel, Robert Kleta, William A. Gahl

    出版 2011
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  8. 8
    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) 由 Barış Türkbey, İclal Ocak, Kailash Daryanani, Esperanza Font–Montgomery, Linda Lukose, Joy Bryant, M. Tuchman, Parvathi Mohan, Theo Heller, William A. Gahl, Peter L. Choyke, Meral Gunay‐Aygun

    出版 2008
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  9. 9
    Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

    Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia 由 Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien, James A. Curry, Dawn Maynard, Hannah Carlson-Donohoe, Carla Ciccone, NISC Comparative Sequencing Program, Thomas C. Markello, Meral Gunay‐Aygun, Marjan Huizing, William A. Gahl

    出版 2011
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  10. 10
    Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

    Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls 由 Joan C. Han, Daniela P. Reyes-Capó, Chia‐Ying Liu, James C. Reynolds, Evrim Türkbey, Barış Türkbey, Joy Bryant, Jan D. Marshall, Jürgen Κ. Naggert, William A. Gahl, Jack A. Yanovski, Meral Gunay‐Aygun

    出版 2018
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  11. 11
    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 由 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

    出版 2018
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  12. 12
    PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

    PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis 由 Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica–Worms, Joy Bryant, Isa Bernardini, Roxanne Fischer, Marjan Huizing, Lisa M. Guay‐Woodford, William A. Gahl

    出版 2009
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  13. 13
    In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

    In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations 由 Hiroko Shimada, Quanlong Lü, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay‐Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop

    出版 2017
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  14. 14
    Prospective Evaluation of Kidney Disease in Joubert Syndrome

    Prospective Evaluation of Kidney Disease in Joubert Syndrome 由 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

    出版 2017
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  15. 15
    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 由 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

    出版 2017
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  16. 16
    Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

    Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes 由 May Christine V. Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M. Zein, Joseph Snow, Meghana Vemulapalli, James C. Mullikin, Camilo Toro, Benjamin D. Solomon, John E. Niederhuber, William A. Gahl, Meral Gunay‐Aygun

    出版 2015
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  17. 17
    Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

    Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease 由 Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose, Maya T. Gerstein, Katie Piwnica–Worms, Peter L. Choyke, Kailash T. Daryanani, Barış Türkbey, Roxanne Fischer, Isa Bernardini, Murat Sincan, Xiongce Zhao, Netanya G. Sandler, Annelys Roque, Daniel C. Douek, Jennifer Graf, Marjan Huizing, Joy Bryant, Parvathi Mohan, William A. Gahl, Theo Heller

    出版 2012
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  18. 18
    Consensus clinical management guidelines for Alström syndrome

    Consensus clinical management guidelines for Alström syndrome 由 Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay‐Aygun, Francesca Dassie, Vincent Marion, M. Valenti, Kerry Leeson-Beevers, A Chivers, Richard P. Steeds, Timothy Barrett, Tarekegn Geberhiwot

    出版 2020
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  19. 19
    York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

    York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 由 Thomas C. Markello, Dong Chen, Justin Kwan, Iren Horkayne‐Szakaly, Alan Morrison, Olga Šimáková, Irina Marić, Jay N. Lozier, Andrew R. Cullinane, Tatjana Kilo, Lynn Meister, Kourosh Pakzad, William P. Bone, Sanjay Chainani, Elizabeth Lee, Amanda E. Links, Cornelius F. Boerkoel, Roxanne Fischer, Camilo Toro, James G. White, William A. Gahl, Meral Gunay‐Aygun

    出版 2014
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  20. 20
    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference

    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference 由 Meral Gunay‐Aygun, Ellis D. Avner, Robert L. Bacallao, Peter L. Choyke, Joseph T. Flynn, Gregory G. Germino, Lisa M. Guay‐Woodford, Peter C. Harris, Theo Heller, Julie R. Ingelfinger, Frederick J. Kaskel, Robert Kleta, Nicholas F. LaRusso, Parvathi Mohan, Gregory J. Pazour, Benjamin L. Shneider, Vicente E. Torres, Patricia D. Wilson, Colleen Zak, Jing Zhou, William A. Gahl

    出版 2006
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