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收藏Type I Hyperprolinemia: Genotype/Phenotype Correlations
Guilmatre, Audrey; Legallic, Solenn; Steel, Gary; Willis, Alecia; Di Rosa, Gabriella; Goldenberg, Alice; Drouin-Garraud, Valerie; Guet, Agnes; Mignot, Cyril; Des Portes, Vincent; Valayannopoulos, Vassili; Van Maldergem, Lionel; Hoffman, Jodi D.; Izzi, Claudia; Espil-Taris, Caroline; Orcesi, Simona; Bonafe, Luisa; Le Galloudec, Eric; Maurey, Helene; Ioos, Christine; Afenjar, Alexandra; Blanchet, Patricia; Echenne, Bernard; Roubertie, Agathe; Frebourg, Thierry; Valle, David; Campion, Dominique
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收藏Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia
Chen, Pei-Lung; Avramopoulos, Dimitrios; Lasseter, Virginia K.; McGrath, John A.; Fallin, M. Daniele; Liang, Kung-Yee; Nestadt, Gerald; Feng, Ningping; Steel, Gary; Cutting, Andrew S.; Wolyniec, Paula; Pulver, Ann E.; Valle, David
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收藏Environmental influences on hypothalamic-pituitary-thyroid function and behavior in Antarctica
Palinkas, Lawrence A.; Reedy, Kathleen R.; Shepanek, Marc; Smith, Mark; Anghel, Mihai; Steel, Gary D.; Reeves, Dennis; Case, H. Samuel; Van Do, Nhan; Reed, H. Lester
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收藏Bipolar I disorder and schizophrenia: A 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios
Fallin, MD; Lasseter, VK; Avramopoulos, D; Nicodemus, KK; Wolyniec, PS; McGrath, JA; Steel, G; Nestadt, G; Liang, KY; Huganir, RL; Valle, D; Pulver, AE
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收藏Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
Braverman, N; Chen, L; Lin, P; Obie, C; Steel, G; Douglas, P; Chakraborty, PK; Clarke, JTR; Boneh, A; Moser, A; Moser, H; Valle, D
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收藏Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
Camacho, JA; Obie, C; Biery, B; Goodman, BK; Hu, CA; Almashanu, S; Steel, G; Casey, R; Lambert, M; Mitchell, GA; Valle, D
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