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1 Ergebnisse
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutation..:
Avila, Magali
;
Dyment, David A
;
Sagen, Jørn V
...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12688. , 2016
Link:
https://univ-rennes.hal.science/hal-01225503
RT Journal T1
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management
UL https://suche.suub.uni-bremen.de/peid=base-fthospicivilyon:oai:HAL:hal-01225503v1&Exemplar=1&LAN=DE A1 Avila, Magali A1 Dyment, David A A1 Sagen, Jørn V A1 St-Onge, Judith A1 Moog, Ute A1 Chung, Brian H. Y A1 Mansour, Sahar A1 Albanese, Assunta A1 Garcia, Sixto A1 Ortiz Martin, David A1 Lopez, Ainhoa Abad A1 Claudi, Tor A1 König, Rainer A1 White, Susan M A1 Sawyer, Sarah L A1 Bernstein, Jon A A1 Slattery, Leah A1 Jobling, Rebekah K A1 Yoon, Grace A1 Curry, Cynthia J A1 Le Merrer, Martine A1 Le Luyer, Bernard A1 Héron, Delphine A1 Mathieu-Dramard, Michèle A1 Bitoun, Pierre A1 Odent, Sylvie A1 Amiel, Jeanne A1 Kuentz, Paul A1 Thevenon, Julien A1 Laville, Martine A1 Reznik, Yves A1 Fagour, Cédric A1 Nunes, Marie-Laure A1 Delesalle, Dorothée A1 Manouvrier, Sylvie A1 Lascols, Olivier A1 Huet, Frédéric A1 Binquet, Christine A1 Faivre, Laurence A1 Rivière, Jean-Baptiste A1 Vigouroux, Corinne A1 Njølstad, Pål Rasmus A1 Innes, A. Micheil A1 Thauvin-Robinet, Christel PB HAL CCSD; Wiley YR 2016 K1 lipoatrophy K1 SHORT syndrome K1 PIK3R1 gene K1 short stature K1 Diabetes K1 Insulin Resistance K1 intrauterine growth restriction K1 [SDV]Life Sciences [q-bio] K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.12688 LK http://dx.doi.org/https://univ-rennes.hal.science/hal-01225503 DO https://univ-rennes.hal.science/hal-01225503 SF ELIB - SuUB Bremen
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