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Enfermedades Infecciosas y Microbiologia Clinica, ISSN 0213-005X, 2019
Introduction: Pneumocystis jirovecii pneumonia (PJP) is a life-threatening condition in immunocompromised children. Our aim is to analyze the epidemiologic and... 
Retrospective studies | Immunocompromised host | Child | Pneumocystis pneumonia
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 694 - 6
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C... 
INTELLECTUAL DISABILITY | PROTEIN | AUTISM | DE-NOVO MUTATIONS | SEVERE SPEECH | LANGUAGE IMPAIRMENT | MULTIDISCIPLINARY SCIENCES | DISEASE | DISORDERS | TRANSCRIPTION FACTOR | FOXP1 | Intellectual disabilities | Mutation | Index Medicus | Mutació (Biologia) | Chromosome abnormalities | Mutation (Biology) | Anomalies cromosòmiques
Journal Article
ISSN 1932-6203, 11/2018
MicroRNAs (miRNAs) are important regulators of many cellular processes, including the differentiation and activity of osteoblasts, and therefore, of bone... 
Oxidative stress | Osteoporosis | Osteoporosi | Teixit ossi | Estrès oxidatiu | Bone | Gene expression | Expressió gènica
Journal Article
by Trajanoska, Katerina and Morris, John A and Oei, Ling and Zheng, Hou-Feng and Evans, David M and Kiel, Douglas P and Ohlsson, Claes and Richards, J. Brent and Rivadeneira, Fernando and Forgett, V and Leong, A and Ahmad, O.S and Laurin, C and Mokry, L.E and Ross, S and Elks, C.E and Bowden, J and Warrington, N.M and Kleinman, A and Willems, S.M and Wright, D and Day, F.R and Murray, A and Ruth, K.S and Tsilidis, K.K and Ackert-Bicknell, C.L and Bassett, J.H.D and van der Eerden, B.C.J and Gautvik, K and Reppe, S and Williams, G.R and Medina-Gómez, C and Estrada, K and Amin, N and Bis, J.C and Breda, S and Chasman, Chasman and Demissie, S and Enneman, A.W and Hsu, Y.H and Ingvarsson, T and Kähönen, M and Kammerer, C and Lacroix, A.Z and Li, G and Liu, C.T and Liu, Y and Lorentzon, M and Mägi, R and Mihailov, E and Mlani, L and Moayyeri, A and Nielson, C.M and Nerea, A and Sham, P.C and Siggeirsdotir, K and Sigurdsson, G and Thorsteinsdottir, U and Trompet, S and Thorleifsson, G and Vandenput, L and van der Velde, N and Viikari, J and Xiao, S.M and Hua Zhao, J and Akesson, K.E and Andersen, M and Atanasovska, B and Balcells, S and Eriksson, J and Formosa, M.M and Garcia-Ibarbia, C and Gonzalez-Macias, J and Garcia-Giralt, N and Hallmans, G and Karlsson, M and Khusainova, R and Kim, Kim and Lee, S.H and Leung, P.C and Mallmin, H and Kwok, T.C.Y and Masi, L and Melin, B.S and Mencej-Bedrac, S and Nethander, M and Olmos, J.M and Kollia, P and Prezelj, J and Van Schoor, Schoor and Svensson, O and Szulc, P and Valero, C and Woo, J and Brandi, M and Cheng, S and Chapurlat, R and Christiansen, C and Cooper, C and Dedoussis, G and ... and GEFOS GENOMOS Consortium and 23andMe Res Team and GEFOS/GENOMOS consortium and the 23andMe research team and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för kirurgiska vetenskaper
BMJ (Online), ISSN 0959-8146, 2018, Volume 362, pp. k3225 - k3225
Journal Article
Clinical Case Reports, ISSN 2050-0904, 08/2018, Volume 6, Issue 8, pp. 1452 - 1456
In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1... 
ASXL1 | Bohring‐Opitz syndrome | mutation prioritization | variants of unknown significance | intellectual disability | Bohring-Opitz syndrome | Mutation
Journal Article
Journal Article
BMC medical genomics, ISSN 1755-8794, 05/2017, Volume 10, Issue 1, pp. 36 - 36
Funding for the work carried out in this article [1] was supported by grant FIS PI10/01537 and the Red Tematica de Investigacion Cooperativa en Envejecimiento... 
Osteoporosis | Bone (trabecular) | Hip | MiRNA
Journal Article