يعرض 1 - 10 نتائج من 79 نتيجة بحث عن '"Isabelle, Maystadt"', وقت الاستعلام: 1.23s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

    المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet

    المصدر: Frontiers in Genetics, Vol 14 (2023)

    مصطلحات موضوعية: GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/full; https://doaj.org/toc/1664-8021

    URL الوصول: https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd

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  2. 2
    دورية أكاديمية
    Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

    المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

    المصدر: HGG Advances, Vol 4, Iss 1, Pp 100168- (2023)

    مصطلحات موضوعية: Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000860; https://doaj.org/toc/2666-2477

    URL الوصول: https://doaj.org/article/ddf394ee2a824e889ca80fd9964b128c

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  3. 3
    دورية أكاديمية
    Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

    المؤلفون: Gladys, Battisti, René, Wintjens, Anabelle, Decottignies, Ahmad, Merhi, Caroline, Fervaille, Etienne, Sokal, Deniz, Karadurmus, Valerie, Benoit, Anick, Claessens, Jean-Paul, Martinet, Benoît, Martiat, Philippe, Kinzinger, Isabelle, Maystadt

    المصدر: In European Journal of Medical Genetics December 2021 64(12)

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  4. 4
    دورية أكاديمية
    Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant

    المؤلفون: Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt

    المصدر: Frontiers in Neurology, Vol 13 (2022)

    مصطلحات موضوعية: mitochondrial fission, DRP1, DNM1L, encephalopathy, EMPF1, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.937885/full; https://doaj.org/toc/1664-2295

    URL الوصول: https://doaj.org/article/fb9e9eb0a6ec49f79860bee515199a0a

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  5. 5
    دورية أكاديمية
    Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

    المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

    المصدر: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)

    مصطلحات موضوعية: PHF8, X-linked intellectual disability, orofacial clefting, epigenetic gene regulation, histone demethylation, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000185; https://doaj.org/toc/2666-2477

    URL الوصول: https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c

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  6. 6
    دورية أكاديمية
    Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance

    المؤلفون: Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt

    المصدر: Frontiers in Endocrinology, Vol 13 (2022)

    مصطلحات موضوعية: PTH1R, iPPSD1, epilepsy, parathyroid hormone, alfacalcidol, GNAS, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.928284/full; https://doaj.org/toc/1664-2392

    URL الوصول: https://doaj.org/article/83a6fdcdadd640549bf9cb6a62b130ff

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  7. 7
    دورية أكاديمية
    Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

    المؤلفون: Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz

    المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

    مصطلحات موضوعية: brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2324-9269

    URL الوصول: https://doaj.org/article/7feac2e044344c5c91673d23c2f81236

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  8. 8
    دورية أكاديمية
    Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

    المؤلفون: Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt

    المصدر: Clinical Case Reports, Vol 7, Iss 7, Pp 1352-1354 (2019)

    مصطلحات موضوعية: acampomelic campomelic dysplasia, olfactory bulbs agenesis, prenatal diagnosis, SOX9 gene, Medicine, Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2050-0904

    URL الوصول: https://doaj.org/article/1ef3b0e4fd95484c97fd830f2dc2507d

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  9. 9
    دورية أكاديمية
    Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease

    المؤلفون: Patrick Lüningschrör, Beyenech Binotti, Benjamin Dombert, Peter Heimann, Angel Perez-Lara, Carsten Slotta, Nadine Thau-Habermann, Cora R. von Collenberg, Franziska Karl, Markus Damme, Arie Horowitz, Isabelle Maystadt, Annette Füchtbauer, Ernst-Martin Füchtbauer, Sibylle Jablonka, Robert Blum, Nurcan Üçeyler, Susanne Petri, Barbara Kaltschmidt, Reinhard Jahn, Christian Kaltschmidt, Michael Sendtner

    المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2041-1723

    URL الوصول: https://doaj.org/article/ba7baaeefffb431d9f931d09c46a1a22

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  10. 10
    Natural history of KBG syndrome in a large European cohort

    المؤلفون: Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto

    المساهمون: Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Pediatrics

    المصدر: Human molecular genetics, 31(24), 4131-4142. Oxford University Press
    Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
    Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press

    مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::943e833f54562fc53803a9db42994e5b
    https://doi.org/10.1093/hmg/ddac167

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