نتائج البحث - Frances Flinter

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  1. 1
    Clinical utility gene card for: Alport syndrome – update 2014

    Clinical utility gene card for: Alport syndrome – update 2014 حسب Jens Michael Hertz, Mads Thomassen, Helen Storey, Frances Flinter

    منشور في 2014
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  2. 2
    Detection of mutations in COL4A5 in patients with Alport Syndrome

    Detection of mutations in COL4A5 in patients with Alport Syndrome حسب Kathryn E. Plant, Peter M. Green, David Vetrie, Frances Flinter

    منشور في 1999
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  3. 3
    COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

    COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome حسب Helen Storey, Judy Savige, Vanessa Sivakumar, Stephen Abbs, Frances Flinter

    منشور في 2013
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  4. 4
    New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

    New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey حسب Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf, D. S. Parker, Frances Flinter

    منشور في 1999
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  5. 5
    Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

    Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study حسب Paul N. Scriven, Frances Flinter, Yakoub Khalaf, Alison Lashwood, Caroline Mackie Ogilvie

    منشور في 2013
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  6. 6
    Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

    Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. حسب Philip L. Beales, Alison Warner, G. A. Hitman, Rajesh V. Thakker, Frances Flinter

    منشور في 1997
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  7. 7
    Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

    Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy حسب Judy Savige, Martin C. Gregory, Oliver Groß, Clifford E. Kashtan, Jie Ding, Frances Flinter

    منشور في 2013
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  8. 8
    Aortic abnormalities in males with Alport syndrome

    Aortic abnormalities in males with Alport syndrome حسب Clifford E. Kashtan, Yoav Segal, Frances Flinter, David Makanjuola, Jay-Sen Gan, Terry Watnick

    منشور في 2010
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  9. 9
    Alport Syndrome in Women and Girls

    Alport Syndrome in Women and Girls حسب Judy Savige, Deb Colville, Michelle N. Rheault, Susie Gear, Rachel Lennon, Sharon Lagas, Moira Finlay, Frances Flinter

    منشور في 2016
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  10. 10
    CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin

    CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin حسب Vanja Karamatic Crew, Nick Burton, Alexander Kagan, Carole A. Green, C. Levene, Frances Flinter, R.L. Brady, Geoff Daniels, David J. Anstee

    منشور في 2004
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  11. 11
    Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1

    Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1 حسب Sally Feather, Sue Malcolm, Adrian S. Woolf, Victoria Wright, Diana C. Blaydon, Christopher Reid, Frances Flinter, Willem Proesmans, Koenraad Devriendt, Joan Carter, Paul Warwicker, Timothy H.J. Goodship, Judith A. Goodship

    منشور في 2000
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  12. 12
    Expert consensus guidelines for the genetic diagnosis of Alport syndrome

    Expert consensus guidelines for the genetic diagnosis of Alport syndrome حسب Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Oliver Groß, Constantinos Deltas, Frances Flinter, Jie Ding, Daniel P. Gale, Mato Nagel, Michael Yau, Lev Shagam, Roser Torrá, Elisabet Ars, Julia Hoefele, Guido Garosi, Helen Storey

    منشور في 2018
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  13. 13
    Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

    Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease حسب Rachel Lennon, Helen M. Stuart, Agnieszka Bierżyńska, Michael J. Randles, Bronwyn Kerr, Katherine A. Hillman, Gauri Batra, J. M. H. Campbell, Helen Storey, Frances Flinter, Ania Koziell, Gavin I. Welsh, Moin A. Saleem, Nicholas J.A. Webb, Adrian S. Woolf

    منشور في 2015
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  14. 14
    X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

    X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations حسب Judy Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton V. Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torrá, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

    منشور في 2016
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  15. 15
    The 2014 International Workshop on Alport Syndrome

    The 2014 International Workshop on Alport Syndrome حسب Jeffrey H. Miner, Colin Baigent, Frances Flinter, Oliver Groß, Parminder K. Judge, Clifford E. Kashtan, Sharon Lagas, Judy Savige, Dave Blatt, Jie Ding, Daniel P. Gale, Julian Midgley, Sue Povey, Marco Prunotto, Daniel Renault, Jules Skelding, Neil Turner, Susie Gear

    منشور في 2014
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  16. 16
    Evidence of digenic inheritance in Alport syndrome

    Evidence of digenic inheritance in Alport syndrome حسب Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A. Sayer, Arthur van den Wijngaard, Shu Yau, Francesca Mari, Mirella Bruttini, Francesca Ariani, Karin Dahan, H.J.M. Smeets, Corinne Antignac, Frances Flinter, Alessandra Renieri

    منشور في 2015
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  17. 17
    Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals

    Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals حسب Dwaipayan Adhya, Vivek Swarup, Roland Nagy, Lucia Dutan, Carole Shum, Eva P. Valencia-Alarcón, Kamila M. Jozwik, María Andreina Méndez, Jamie Horder, Eva Loth, Paulina Nowosiad, Irene Lee, David Skuse, Frances Flinter, Declan Murphy, Gráinne McAlonan, Daniel H. Geschwind, Jack Price, Jason S. Carroll, Deepak P. Srivastava, Simon Baron‐Cohen

    منشور في 2020
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  18. 18
    X-Linked Alport Syndrome

    X-Linked Alport Syndrome حسب Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras, Mario Marchi, Gianfranco Rizzoni, Alessandra Renieri, Manfred Weber, Oliver Groß, Kai‐Olaf Netzer, Frances Flinter, Yves Pirson, Karin Dahan, Jörgen Wieslander, Ulf Persson, Karl Tryggvason, Paula Martin, Jens Michael Hertz, Cornelis H. Schröder, Marek Sanak, Maria Fernanda Carvalho de Camargo, Juan Saus, Corinne Antignac, Hubert J.M. Smeets, Marie‐Claire Gubler

    منشور في 2003
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  19. 19
    X-linked Alport Syndrome

    X-linked Alport Syndrome حسب Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras, Mario Marchi, Gianfranco Rizzoni, Alessandra Renieri, Manfred Weber, Oliver Groß, Kai‐Olaf Netzer, Frances Flinter, Yves Pirson, Christine Verellen, Jörgen Wieslander, Ulf Persson, Karl Tryggvason, Paula Martin, Jens Michael Hertz, Cornelis H. Schröder, Marek Sanak, S Krejcová, Maria Fernanda Carvalho de Camargo, Juan Saus, Corinne Antignac, Hubert J.M. Smeets, Marie‐Claire Gubler

    منشور في 2000
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  20. 20
    The 2019 and 2021 International Workshops on Alport Syndrome

    The 2019 and 2021 International Workshops on Alport Syndrome حسب Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska‐Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P. Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torrá, Jeff H. Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, André Weinstock, Bertrand Knebelmann, Agnė Čerkauskaitė, Susie Gear, Oliver Groß, Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri

    منشور في 2022
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