المؤلفون: Demetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J., Summers, Kim M.

المصدر: In Molecular Genetics and Metabolism August 2024 142(4)

المؤلفون: Celse, Tristan, Tingaud-Sequeira, Angèle, Dieterich, Klaus, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Van Kien, Philippe Khau, Godin, Manon, Gruchy, Nicolas, Goel, Himanshu, Palmer, Elizabeth, Demetriou, Kalliope, Shalhoub, Carolyn, Rooryck-Thambo, Caroline, Coutton, Charles

المصدر: Journal of Medical Genetics. 60(6):620-626

مصطلحات موضوعية: Gene Duplication, Genomics, Human Genetics, Congenital, Hereditary, Neonatal Diseases and Abnormalities

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-512808

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Celse, Tristan, Tingaud-Sequeira, Angèle, Dieterich, Klaus, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Soussi Zander, Cecilia, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Khau Van Kien, Philippe, Godin, Manon, Gruchy, Nicolas, Goel, Himanshu, Palmer, Elizabeth, Demetriou, Kalliope, Shalhoub, Carolyn, Rooryck, Caroline, Coutton, Charles

المصدر: Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 6 p620-626, 7p

المؤلفون: Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David, McGill, Jim

المصدر: Journal of Inherited Metabolic Disease Reports; Sep2022, Vol. 63 Issue 5, p420-424, 5p

المؤلفون: Selvanathan A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Demetriou K; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Lynch M; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Lipke M; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Bursle C; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Elliott A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Inwood A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia., Foyn L; Chemical Pathology, Central Laboratory Pathology Queensland Herston Australia., McWhinney B; Chemical Pathology, Central Laboratory Pathology Queensland Herston Australia., Coman D; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Medicine University of Queensland Brisbane Australia., McGill J; Chemical Pathology, Central Laboratory Pathology Queensland Herston Australia.

المصدر: JIMD reports [JIMD Rep] 2022 Jul 22; Vol. 63 (5), pp. 420-424. Date of Electronic Publication: 2022 Jul 22 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE