Results 81 to 90 of about 274 (157)
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach. [PDF]
Front ImmunolRozevska M, Daila Neiburga-Vigante K, Nartisa I, Lucane Z, Ozola L, Bardina L, Jaunalksne I, Gerula N, Krike P, Taurina G, Nokalna-Spale I, Micule I, Vilne B, Kisand K, Pajusalu S, Gailite L, Rots D, Kurjane N. +17 moreeuropepmc +1 more sourceCharacterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. [PDF]
BrainFoley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. +68 moreeuropepmc +1 more sourceResistance Exercise Training Mitigates Left Ventricular Dysfunctions in Pulmonary Artery Hypertension Model. [PDF]
Arq Bras Cardiol, 2022 Soares LL, Leite LB, Ervilha LOG, Silva BAFD, Freitas MO, Portes AMO, Rezende LMT, Drummond FR, Carneiro-Júnior MA, Neves MM, Reis ECC, Natali AJ. +11 moreeuropepmc +1 more sourceDe novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. [PDF]
Nat GenetQuinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leibu R, Leroy BP, Liskova P, Lopez I, López-Rodríguez VRJ, Mahieu Q, Mahroo OA, Manes G, Mansard L, Martín-Gutiérrez MP, Martins N, Mauring L, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Ołdak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Ramond F, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Ederra J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stefansson K, Stingl K, Suga A, Sulem P, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Thiadens AAHJ, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, Valleix S, van Aerschot J, van den Born LI, Van Heetvelde M, Verhoeven VJM, Vincent AL, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Lin S, Cremers FPM, Lee W, Ellingford JM, Stanek D, Roosing S, Rivolta C. +187 moreeuropepmc +1 more source
