Hasil Pencarian - Gaëtan Lesca

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  1. 1
    Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

    Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly oleh Ethiraj Ravindran, Ethiraj Ravindran, Ethiraj Ravindran, Gaetan Lesca, Gaetan Lesca, Louis Januel, Linus Goldgruber, Achim Dickmanns, Henri Margot, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl

    Diterbitkan 2023-02-01
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  2. 2
    Are c.436G>A mutations less severe forms of Lafora disease? A case report

    Are c.436G>A mutations less severe forms of Lafora disease? A case report oleh Hélène-Marie Lanoiselée, Pierre Genton, Gaetan Lesca, Florence Brault, Bertrand De Toffol

    Diterbitkan 2014-01-01
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  3. 3
    Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

    Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report oleh Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca

    Diterbitkan 2020-01-01
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  4. 4
    Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

    Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review oleh Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY

    Diterbitkan 2021-07-01
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  5. 5
    A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

    A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability oleh Laurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, Nicolas Chatron, Marina Bussa, Sylvie Mazoyer, Christina Schmitz, Sandrine Sonié, Patrick Edery

    Diterbitkan 2020-09-01
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  6. 6
    Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

    Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE oleh Maria T. Papadopoulou, Lorenzo Muccioli, Francesca Bisulli, Kerstin Alexandra Klotz, Carmen Fons, Marina Trivisano, Teia Kabulashvili, Nicola Specchio, Gaetan Lesca, Alexis Arzimanoglou

    Diterbitkan 2024-06-01
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  7. 7
    Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature

    Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature... oleh Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti

    Diterbitkan 2024-02-01
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  8. 8
    Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing <i>GNAO1</i> Mutation P170R

    Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing <i>GNAO1</i> Mutation P170R oleh Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev

    Diterbitkan 2023-10-01
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  9. 9
    Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

    Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia oleh Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella

    Diterbitkan 2024-06-01
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  10. 10
    Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

    Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia oleh Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca

    Diterbitkan 2020-09-01
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  11. 11
    Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

    Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism oleh Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva

    Diterbitkan 2019-12-01
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  12. 12
    Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

    Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature oleh Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville

    Diterbitkan 2019-10-01
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  13. 13
    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes oleh Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska

    Diterbitkan 2020-09-01
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  14. 14
    Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

    Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes oleh Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Elena Freri, Anna Binda, Gaetan Lesca, Jacopo C. DiFrancesco, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela

    Diterbitkan 2022-06-01
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  15. 15
    Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

    Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. oleh Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer

    Diterbitkan 2020-01-01
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  16. 16
    Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

    Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. oleh Patrice Roll, Damien Sanlaville, Jennifer Cillario, Audrey Labalme, Nadine Bruneau, Annick Massacrier, Marc Délepine, Philippe Dessen, Vladimir Lazar, Andrée Robaglia-Schlupp, Gaëtan Lesca, Elisabeth Jouve, Gabrielle Rudolf, Jacques Rochette, G Mark Lathrop, Pierre Szepetowski

    Diterbitkan 2010-01-01
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  17. 17
    Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

    Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder oleh Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi

    Diterbitkan 2019-05-01
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  18. 18
    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants oleh Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

    Diterbitkan 2022-05-01
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  19. 19
    Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders

    Refining Genotypes and Phenotypes in <i>KCNA2</i>-Related Neurological Disorders oleh Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe

    Diterbitkan 2021-03-01
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  20. 20
    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

    Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies oleh Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. H. Johannesen, Elena Gardella, Julia Jacobs, Gaetan Lesca, Zeynep Gokce-Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger-Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring

    Diterbitkan 2022-04-01
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