Search Results - Rotthier, Annelies

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  1. 1
    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

    Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I by Rotthier, Annelies, Auer-Grumbach, Michaela, Janssens, Katrien, Baets, Jonathan, Penno, Anke, Almeida-Souza, Leonardo, Van Hoof, Kim, Jacobs, An, De Vriendt, Els, Schlotter-Weigel, Beate, Löscher, Wolfgang, Vondráček, Petr, Seeman, Pavel, De Jonghe, Peter, Van Dijck, Patrick, Jordanova, Albena, Hornemann, Thorsten, Timmerman, Vincent

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  2. 2
    COVID‐19‐associated collapsing glomerulopathy: a report of two cases and literature review

    COVID‐19‐associated collapsing glomerulopathy: a report of two cases and literature review by Izzedine, Hassan, Brocheriou, Isabelle, Arzouk, Nadia, Seilhean, Danielle, Couvert, Philippe, Cluzel, Philippe, Pha, Micheline, Le Monnier, Ophelie, Varnous, Shadia, Andreelli, Fabrizio, Amoura, Zahir, Mathian, Alexis

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  3. 3
    Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

    Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation by Rotthier, Annelies, Baets, Jonathan, Vriendt, Els De, Jacobs, An, Auer-Grumbach, Michaela, Lévy, Nicolas, Bonello-Palot, Nathalie, Kilic, Sara Sebnem, Weis, Joachim, Nascimento, Andrés, Swinkels, Marielle, Kruyt, Moyo C., Jordanova, Albena, De Jonghe, Peter, Timmerman, Vincent

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  4. 4
    Genetic testing of familial hypercholesterolemia: Monogenic form and polygenic contribution to cardiovascular risk

    Genetic testing of familial hypercholesterolemia: Monogenic form and polygenic contribution to cardiovascular risk by Couvert, Philippe, Giral, Philippe, Boelle, Pierre -Yves, Carreau, Valérie, Béliard, Sophie, Lacorte, Jean -Marc, Lesnik, Philippe, Paillard, Francois, Valéro, René, Rotthier, Annelies, Bruckert, Eric, Carrié, Alain

    Published in Atherosclerosis
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  5. 5
    MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME

    MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME by Lipska-Ziętkiewicz, Beata S., Boyer, Olivia, Gribouval, Olivier, Tabatabaei, Mansoureh, Fourrage, Cecile, Nischke, Patrick, Bole-Feysot, Christine, Rotthier, Annelies, Ozaltin, Fatih, Noris, Marina, Schaefer, Franz, Antignac, Corinne, Consortium, EuRenOmics

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  6. 6
    Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

    Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis by Kilic, Sara Sebnem, Ozturk, Rifatcan, Sarisozen, Bartu, Rotthier, Annelies, Baets, Jonathan, Timmerman, Vincent

    Published in Neurogenetics
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  7. 7
    A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

    A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated by Hornemann, Thorsten, Penno, Anke, Richard, Stephane, Nicholson, Garth, van Dijk, Fleur S., Rotthier, Annelies, Timmerman, Vincent, von Eckardstein, Arnold

    Published in Neurogenetics
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