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  1. Hénaut, Alain; Lisacek, Frédérique; Nitschké, Patrick; Moszer, Ivan; Danchin, Antoine

    Global analysis of genomic texts: The distribution of AGCT tetranucleotides in the Escherichia coli and Bacillus subtilis genomes predicts translational frameshifting and ribosomal hopping in several genes

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    Wiley, 1998

    Published in: ELECTROPHORESIS, 19 (1998) 4, Seite 515-527

  2. Ruaud, Lyse; Roux, Nathalie; Boutaud, Lucile; Bessières, Bettina; Ageorges, Faustine; Achaiaa, Amale; Bole, Christine; Nitschke, Patrick; Masson, Cécile; Vekemans, Michel; Verloes, Alain; Attie‐Bitach, Tania

    Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature

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    Wiley, 2022

    Published in: Birth Defects Research, 114 (2022) 10, Seite 499-504

  3. Duchatelet, Sabine; Russo, Claudia; Osterburg, Christian; Mallet, Stéphanie; Bole-Feysot, Christine; Nitschké, Patrick; Richard, Marie-Aleth; Dötsch, Volker; Missero, Caterina; Nassif, Aude; Hovnanian, Alain

    A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia

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    Elsevier BV, 2020

    Published in: Journal of Investigative Dermatology, 140 (2020) 5, Seite 1103-1106.e4

  4. Motomura, Taiki; Suga, Michihiro; Hienerwadel, Rainer; Nakagawa, Akiko; Lai, Thanh-Lan; Nitschke, Wolfgang; Kuma, Takahiro; Sugiura, Miwa; Boussac, Alain; Shen, Jian-Ren

    Crystal structure and redox properties of a novel cyanobacterial heme protein with a His/Cys heme axial ligation and a Per-Arnt-Sim (PAS)-like domain

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    Elsevier BV, 2017

    Published in: Journal of Biological Chemistry, 292 (2017) 23, Seite 9599-9612

  5. Deau, Marie-Céline; Heurtier, Lucie; Frange, Pierre; Suarez, Felipe; Bole-Feysot, Christine; Nitschke, Patrick; Cavazzana, Marina; Picard, Capucine; Durandy, Anne; Fischer, Alain; Kracker, Sven

    A human immunodeficiency caused by mutations in the PIK3R1 gene

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    American Society for Clinical Investigation, 2015

    Published in: Journal of Clinical Investigation, 125 (2015) 4, Seite 1764-1765

  6. Deau, Marie-Céline; Heurtier, Lucie; Frange, Pierre; Suarez, Felipe; Bole-Feysot, Christine; Nitschke, Patrick; Cavazzana, Marina; Picard, Capucine; Durandy, Anne; Fischer, Alain; Kracker, Sven

    A human immunodeficiency caused by mutations in the PIK3R1 gene

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    American Society for Clinical Investigation, 2014

    Published in: Journal of Clinical Investigation, 124 (2014) 9, Seite 3923-3928

  7. Martin, Emmanuel; Palmic, Noé; Sanquer, Sylvia; Lenoir, Christelle; Hauck, Fabian; Mongellaz, Cédric; Fabrega, Sylvie; Nitschké, Patrick; Esposti, Mauro Degli; Schwartzentruber, Jeremy; Taylor, Naomi; Majewski, Jacek; Jabado, Nada; Wynn, Robert F.; Picard, Capucine; Fischer, Alain; Arkwright, Peter D.; Latour, Sylvain

    CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

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    Springer Science and Business Media LLC, 2014

    Published in: Nature, 510 (2014) 7504, Seite 288-292

  8. Martin, Emmanuel; Palmic, Noé; Sanquer, Sylvia; Lenoir, Christelle; Hauck, Fabian; Mongellaz, Cédric; Fabrega, Sylvie; Nitschké, Patrick; Esposti, Mauro Degli; Schwartzentruber, Jeremy; Taylor, Naomi; Majewski, Jacek; Jabado, Nada; Wynn, Robert F.; Picard, Capucine; Fischer, Alain; Arkwright, Peter D.; Latour, Sylvain

    Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

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    Springer Science and Business Media LLC, 2014

    Published in: Nature, 511 (2014) 7509, Seite 370-370

  9. Le Guen, Tangui; Jullien, Laurent; Touzot, Fabien; Schertzer, Michael; Gaillard, Laetitia; Perderiset, Mylène; Carpentier, Wassila; Nitschke, Patrick; Picard, Capucine; Couillault, Gérard; Soulier, Jean; Fischer, Alain; Callebaut, Isabelle; Jabado, Nada; Londono-Vallejo, Arturo; de Villartay, Jean-Pierre; Revy, Patrick

    Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

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    Oxford University Press (OUP), 2013

    Published in: Human Molecular Genetics, 22 (2013) 16, Seite 3239-3249

  10. Moshous, Despina; Martin, Emmanuel; Carpentier, Wassila; Lim, Annick; Callebaut, Isabelle; Canioni, Danielle; Hauck, Fabian; Majewski, Jacek; Schwartzentruber, Jeremy; Nitschke, Patrick; Sirvent, Nicolas; Frange, Pierre; Picard, Capucine; Blanche, Stéphane; Revy, Patrick; Fischer, Alain; Latour, Sylvain; Jabado, Nada; de Villartay, Jean-Pierre

    Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

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    Elsevier BV, 2013

    Published in: Journal of Allergy and Clinical Immunology, 131 (2013) 6, Seite 1594-1603.e9

  11. Nehme, Nadine T.; Schmid, Jana Pachlopnik; Debeurme, Franck; André-Schmutz, Isabelle; Lim, Annick; Nitschke, Patrick; Rieux-Laucat, Frédéric; Lutz, Patrick; Picard, Capucine; Mahlaoui, Nizar; Fischer, Alain; de Saint Basile, Geneviève

    MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

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    American Society of Hematology, 2012

    Published in: Blood, 119 (2012) 15, Seite 3458-3468