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European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis | Index Medicus
Journal Article
by Mercuri, Eugenio and Finkel, Richard S and Muntoni, Francesco and Wirth, Brunhilde and Montes, Jacqueline and Main, Marion and Mazzone, Elena S and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Bertini, Enrico and Davis, Rebecca Hurst and Meyer, Oscar H and Simonds, Anita K and Schroth, Mary K and Graham, Robert J and Kirschner, Janbernd and Iannaccone, Susan T and Crawford, Thomas O and Woods, Simon and Qian, Ying and Sejersen, Thomas and Muntoni, Francesco and Wirth, Brunhilde and Tiziano, Francesco Danilo and Kirschner, Janbernd and Tizzano, Eduardo and Topaloglu, Haluk and Swoboda, Kathy and Laing, Nigel and Kayoko, Saito and Prior, Thomas and Chung, Wendy K and Wu, Shou-Mei and Montes, Jacqueline and Mazzone, Elena and Main, Marion and Coleman, Caron and Gee, Richard and Glanzman, Allan and Kroksmark, Anna-Karin and Krosschell, Kristin and Nelson, Leslie and Rose, Kristy and Stępień, Agnieszka and Vuillerot, Carole and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Dubousset, Jean and Farrington, David and Flynn, Jack and Halanski, Matthew and Hasler, Carol and Miladi, Lotfi and Reilly, Christopher and Roye, Benjamin and Sponseller, Paul and Yazici, Muharrem and Hurst, Rebecca and Bertini, Enrico and Tarrant, Stacey and Barja, Salesa and Bertoli, Simona and Crawford, Thomas and Foust, Kevin and Kyle, Barbara and Rodan, Lance and Roper, Helen and Seffrood, Erin and Swoboda, Kathryn and Szlagatys-Sidorkiewicz, Agnieszka and SMA Care Group and SMA Care Grp
Neuromuscular disorders : NMD, ISSN 0960-8966, 02/2018, Volume 28, Issue 2, pp. 103 - 115
Journal Article
Annals of neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 883 - 891
Journal Article