Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Autor: Aartsma-Rus, A, Hegde, M, Ben-Omran, T, Buccella, F, Ferlini, A, Gallano, P, Howell, RR, Leturcq, F, Martin, AS, Potulska-Chromik, A, Saute, JA, Schmidt, WM, Sejersen, T, Tuffery-Giraud, S, Uyguner, ZO, Witcomb, LA, Yau, S, Nelson, SF

Publikováno v: JOURNAL OF PEDIATRICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e84954575d952f99828aadae03e3c5d0
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3142

Genome-wide scan in 115 attention deficit hyperactivity disorder (ADHD) affected-sibling pair families

Autor: Ogdie, MN, Macphie, IL, Fisher, SE, Franks, C, Minassian, S, McCracken, JJ, McGough, JT, Monaco, AP, Nelson, SF, Smalley, S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::847dd7a8eaac1490fa920785dc538768
https://ora.ox.ac.uk/objects/uuid:c5e15dbd-c520-412b-8981-6b7aae5498e2

Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

Autor: Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D

Publikováno v: Taylor, P; Wu, S; Nelson, SF; Cohn, DH; & Krakow, D. (2012). Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy. Cilia, 1(Suppl 1), P105. doi: http://dx.doi.org/10.1186/2046-2530-1-S1-P105. Retrieved from: http://www.escholarship.org/uc/item/7kj4660v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::40753152b11ee7c65ce04c318f11d332
http://www.escholarship.org/uc/item/7kj4660v

TSGA14 is mutated in Joubert syndrome ans is required for tubulin glutamylation at the cilium

Autor: Lee, Je, Silhavy, Jl, Zaki, Ms, Schroth, J, Bielas, Sl, Marsh, Se, Olvera, J, Brancati, F, Iannicelli, M, Ikegami, K, Schlossman, Am, Merriman, B, Attié Bitach, T, Logan, Cv, Glass, Ia, Cluckey, A, Louie, Cm, Lee, Jh, Raynes, Hr, Rapin, I, Setou, M, Barbot, C, Boltshauser, E, Nelson, Sf, Hildebrandt, F, Johnson, Ca, Doherty, Da, Valente, Enza Maria, Gleeson, Jg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::106b638178bbc2b0336bd372fa29e6c4
http://hdl.handle.net/11570/1938201

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