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Jaureguiberry, Graciana [Author]; De la Dure-Molla, Muriel [Author]; Parry, David [Author]; Quentric, Mickael [Author]; Himmerkus, Nina [Author]; Koike, Toshiyasu [Author]; Poulter, James [Author]; Klootwijk, Enriko [Author]; Robinette, Steven L. [Author]; Howie, Alexander J. [Author]; Patel, Vaksha [Author]; Figueres, Marie-Lucile [Author]; Stanescu, Horia C. [Author]; Issler, Naomi [Author]; Nicholson, Jeremy K. [Author]; Bockenhauer, Detlef [Author]; Laing, Christopher [Author]; Walsh, Stephen B. [Author]; McCredie, David A. [Author]; Povey, Sue [Author]; Asselin, Audrey [Author]; Picard, Arnaud [Author]; Coulomb, Aurore [Author]; Medlar, Alan J. [Author]; [...]Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutationsView onlineSchließen
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Published in: Nephron. Physiology ; 122 (2012), 1-2
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Dubourg, Christèle; Carré, Wilfrid; Hamdi-Rozé, Houda; Mouden, Charlotte; Roume, Joëlle; Abdelmajid, Benmansour; Amram, Daniel; Baumann, Clarisse; Chassaing, Nicolas; Coubes, Christine; Faivre-Olivier, Laurence; Ginglinger, Emmanuelle; Gonzales, Marie; Levy-Mozziconacci, Annie; Lynch, Sally-Ann; Naudion, Sophie; Pasquier, Laurent; Poidvin, Amélie; Prieur, Fabienne; Sarda, Pierre; Toutain, Annick; Dupé, Valérie; Akloul, Linda; Odent, Sylvie; [...]Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway : HUMAN MUTATION : HUMAN MUTATIONView onlineSchließen
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Published in: Human Mutation
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Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohring, Axel; Deleuze, Jean-François; Boland, Anne; Meyer, Vincent; Olaso, Robert; Ginglinger, Emmanuelle; Study, DDD; Rivière, Jean-Baptiste; [...]Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotypeView onlineSchließen
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Published in: Journal of Medical Genetics
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Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie, Agathe; Aladjidi, Nathalie; Tison, François; Antoine‐Poirel, Hélène; Dahan, Karine; Doummar, Diane; Nougues, Marie‐Christine; Ioos, Christine; [...]Functional classification of ATM variants in ataxia‐telangiectasia patientsView onlineSchließen
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Published in: Human Mutation
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Lefebvre, Mathilde; Dieux-Coeslier, Anne; Baujat, Geneviève; Schaefer, Elise; Judith, Saint-Onge; Bazin, Anne; Pinson, Lucile; Attie-Bitach, Tania; Baumann, Clarisse; Fradin, Melanie; Pierquin, Genevieve; Julia, Sophie; Quélin, Chloé; Doray, Bérénice; Berg, Sylvie; Vincent-Delorme, Catherine; Lambert, Laetitia; Bachmann, Nadine; Lacombe, Didier; Isidor, Bertrand; Laurent, Nicole; Joelle, Roume; Blanchet, Patricia; Odent, Sylvie; [...]Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsView onlineSchließen
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Published in: Journal of Medical Genetics
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de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; [...]ARF1-related disorder: phenotypic and molecular spectrumView onlineSchließen
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Published in: Journal of Medical Genetics
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Heddar, Abdelkader; Ogur, Cagri; Da Costa, Sabrina; Braham, Inès; Billaud-Rist, Line; Findikli, Necati; Beneteau, Claire; Reynaud, Rachel; Mahmoud, Khaled; Legrand, Stéphanie; Marchand, Maud; Cedrin-Durnerin, Isabelle; Cantalloube, Adèle; Peigne, Maeliss; Bretault, Marion; Dagher-Hayeck, Benedicte; Perol, Sandrine; Droumaguet, Celine; Cavkaytar, Sabri; Nicolas-Bonne, Carole; Elloumi, Hanen; Khrouf, Mohamed; Rougier-LeMasle, Charlotte; Fradin, Melanie; [...]Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicineView onlineSchließen
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Published in: eBioMedicine
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Heddar, Abdelkader; Ogur, Cagri; Da Costa, Sabrina; Braham, Inès; Billaud-Rist, Line; Findlinki, Necati; Beneteau, Claire; Reynaud, Rachel; Mahmoud, Khaled; Legrand, Stéphanie; Marchand, Maud; Durnerin, Isabelle Cedrin; Cantaloube, Adèle; Peigne, Maeliss; Bretault, Marion; Hayeck, Benedicte Dagher; Perol, Sandrine; Droumaguet, Celine; Cavkaytar, Sabri; Bonne, Carole Nicolas; Elloumi, Hanen; Khrouf, Mohamed; Le Masle, Charlotte Rougier; Fradin, Melanie; [...]Genetic Landscape of a Large Cohort of Primary Ovarian Insufficiency: New Genes and Pathways and Implications for Personalized MedicineView onlineSchließen
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Published in: SSRN Electronic Journal
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Jia, Xiangbin; Zhang, Shujie; Tan, Senwei; Du, Bing; He, Mei; Qin, Haisong; Chen, Jia; Duan, Xinyu; Luo, Jingsi; Chen, Fei; Ouyang, Luping; Wang, Jian; Chen, Guodong; Yu, Bin; Zhang, Ge; Zhang, Zimin; Lyu, Yongqing; Huang, Yi; Jiao, Jian; Chen, Jin Yun (Helen); Swoboda, Kathryn J.; Agolini, Emanuele; Novelli, Antonio; Leoni, Chiara; [...]De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersView onlineSchließen
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Published in: Science Advances
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Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lopez-Cazaux, Séréna; Minoux, Maryline; Jung, Sophie; Obry, Frédéric; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; [...]A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementView onlineSchließen
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Published in: Journal of Medical Genetics
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Ruault, Valentin; Burger, Pauline; Gradels‐Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean‐Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange‐Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye‐Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; [...]Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disordersView onlineSchließen
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Published in: Molecular Genetics & Genomic Medicine
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Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; [...]Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A MutationsView onlineSchließen
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Published in: Nephron Physiology
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Schramm, Catherine; Charbonnier, Camille; Zaréa, Aline; Lacour, Morgane; Wallon, David; Andriuta, Daniela; Anthony, Pierre; Auriacombe, Sophie; Balageas, Anna-Chloé; Ballan, Guillaume; Barbay, Mélanie; Beaufils, Emilie; Béjot, Yannick; Belliard, Serge; Benaiteau, Marie; Bennys, Karim; Blanc, Frédéric; Bombois, Stéphanie; Boutoleau Bretonnière, Claire; Branger, Pierre; Carlier, Jasmine; Cartz-Piver, Leslie; Cassagnaud, Pascaline; Castelnovo, Giovanni; [...]Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypesView onlineSchließen
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Published in: Genome Medicine