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by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
by Anderson, Beverley H and Kasher, Paul R and Mayer, Josephine and Szynkiewicz, Marcin and Jenkinson, Emma M and Bhaskar, Sanjeev S and Urquhart, Jill E and Daly, Sarah B and Dickerson, Jonathan E and O'Sullivan, James and Leibundgut, Elisabeth Oppliger and Muter, Joanne and Abdel-Salem, Ghada M. H and Babul-Hirji, Riyana and Baxter, Peter and Berger, Anea and Bonafé, Luisa and Brunstom-Hernandez, Janice E and Buckard, Johannes A and Chitayat, David and Chong, Wui K and Cordelli, Duccio M and Ferreira, Patrick and Fluss, Joel and Forrest, Ewan H and Franzoni, Emilio and Garone, Caterina and Hammans, Simon R and Houge, Gunnar and Hughes, Imelda and Jacquemont, Sebastien and Jeannet, Pierre-Yves and Jefferson, Rosalind J and Kumar, Ram and Kutschke, Georg and Lundberg, Staffan and Lourenço, Charles M and Mehta, Ramesh and Naidu, Sakkubai and Nischal, Ken K and Nunes, Luís and Ounap, Katrin and Philippart, Michel and Prabhakar, Prab and Risen, Sarah R and Schiffmann, Raphael and Soh, Calvin and Stephenson, John B. P and Stewart, Helen and Stone, Jon and Tolmie, John L and van der Knaap, Marjo S and Vieira, Jose P and Vilain, Catheline N and Wakeling, Emma L and Wermenbol, Vanessa and Whitney, Anea and Lovell, Simon C and Meyer, Stefan and Livingston, John H and Baerlocher, Gabriela M and Black, Graeme C. M and Rice, Gillian I and Crow, Yanick J and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för kvinnors och barns hälsa and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 3, pp. 338 - 342
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 01/2016, Volume 1, Issue 1, pp. 15012 - 15012
The standard of care for first-tier clinical investigation of the aetiology of congenital malformations and neurodevelopmental disorders is chromosome... 
CHROMOSOMAL MICROARRAY | INCIDENTAL FINDINGS | EXOME | PHENOTYPE ONTOLOGY | FUNCTIONAL IMPACT | GENETICS & HEREDITY | MENDELIAN DISORDERS | AMERICAN-COLLEGE | GENETIC-VARIANTS | MUTATIONS | COPY NUMBER VARIANTS
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 4/2016, Volume 25, Issue 2, pp. 298 - 304
Advances in genome-based microarray and sequencing technologies hold tremendous promise for understanding, better-managing and/or preventing disease and... 
Human Genetics | Ethics | Public Health | Uncertainty | Biomedicine | Personal utility | Parental experience | Gynecology | Clinical Psychology | Microarray | Qualitative | INFORMATION | INTERPRETIVE DESCRIPTION | MEDICINE | NEEDS | PERSPECTIVES | GENETICS & HEREDITY | GENETIC TEST | UTILITY | Genetic Counseling - psychology | Oligonucleotide Array Sequence Analysis | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Congenital Abnormalities - diagnosis | Young Adult | Congenital Abnormalities - genetics | Parents - psychology | Adult | Female | Child | Developmental Disabilities - diagnosis | Genetic Diseases, Inborn - diagnosis | Autism Spectrum Disorder - diagnosis | Infant, Newborn | Autism Spectrum Disorder - genetics | Parents - education | Genetic Counseling - methods | Comparative Genomic Hybridization | Consumer Behavior | Adolescent | Qualitative Research | Ontario | Parenting | Pediatrics | Analysis | Genomics | Genetic research | Cytogenetics | Children | Health aspects | Parents | Patient care | Genomes | Disease management | Aetiology | Risk factors | Telephone services | Technology | Etiology | Chromosomes | Psychosocial factors | Family planning | Counselling | Fear | Genetic counseling | DNA microarrays | Pretest counselling | Structured interviews | Arrays | Frustration | Meaning | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2006, Volume 38, Issue 8, pp. 910 - 916
Journal Article
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 05/2013, Volume 22, Issue 9, pp. 1746 - 1754
Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (DG), including POMT1, POMT2,... 
ALPHA-DYSTROGLYCAN | CONGENITAL MUSCULAR-DYSTROPHY | COMPLEX | ABNORMAL GLYCOSYLATION | LAMININ | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | WALKER-WARBURG-SYNDROME | GLYCOPROTEINS | REQUIRES | RECEPTOR | EXTRACELLULAR-MATRIX
Journal Article
Hormone Research in Paediatrics, ISSN 1663-2818, 10/2017, Volume 88, Issue 3-4, pp. 298 - 304
Background and Objectives: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations,... 
Osteogenesis imperfecta | Bone mineral density | Gene mutations | Bone health in children | MASS | GENES | ENDOCRINOLOGY & METABOLISM | FRACTURES | PEDIATRICS | Pedigree | Humans | Child, Preschool | Male | Osteoporosis - genetics | Bone Density - genetics | Mutation | Child | Microfilament Proteins - genetics | Membrane Glycoproteins - genetics | Index Medicus
Journal Article
Genes and Development, ISSN 0890-9369, 04/2016, Volume 30, Issue 7, pp. 812 - 826
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2015, Volume 52, Issue Suppl 1, pp. A1 - A1
Intellectual disability (ID) affects 1%–3% of the population. While it has a strong genetic component, finding a genetic diagnosis remains challenging. Given... 
Journal Article
Journal Article
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