检索结果 - Solomon, B D

Enhancing the Incidental Pipeline in Genomic Sequencing 由 Solomon, B.D.

获取全文 获取全文 获取全文

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations 由 Siebel, S., Solomon, B.D.

获取全文 获取全文 获取全文

Applying Genomic Analysis to Newborn Screening 由 Solomon, B.D., Pineda-Alvarez, D.E., Bear, K.A., Mullikin, J.C., Evans, J.P.

获取全文 获取全文 获取全文

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly 由 Solomon, B.D., Pineda-Alvarez, D.E., Gropman, A.L., Willis, M.J., Hadley, D.W., Muenke, M.

获取全文 获取全文 获取全文

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans 由 Arauz, R.F., Solomon, B.D., Pineda-Alvarez, D.E., Gropman, A.L., Parsons, J.A., Roessler, E., Muenke, M.

获取全文 获取全文 获取全文

Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association 由 Solomon, B.D., Pineda-Alvarez, D.E., Hadley, D.W., Hansen, N.F., Kamat, A., Donovan, F.X., Chandrasekharappa, S.C., Hong, S.-K., Roessler, E., Mullikin, J.C.

获取全文 获取全文 获取全文

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype 由 Keaton, A.A., Solomon, B.D., Kauvar, E.F., El-Jaick, K.B., Gropman, A.L., Zafer, Y., Meck, J.M., Bale, S.J., Grange, D.K., Haddad, B.R., Gowans, G.C., Clegg, N.J, Delgado, M.R., Hahn, J.S., Pineda-Alvarez, D.E., Lacbawan, F., Vélez, J.I., Roessler, E., Muenke, M.

获取全文 获取全文 获取全文

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease 由 Vélez, J I, Chandrasekharappa, S C, Henao, E, Martinez, A F, Harper, U, Jones, M, Solomon, B D, Lopez, L, Garcia, G, Aguirre-Acevedo, D C, Acosta-Baena, N, Correa, J C, Lopera-Gómez, C M, Jaramillo-Elorza, M C, Rivera, D, Kosik, K S, Schork, N J, Swanson, J M, Lopera, F, Arcos-Burgos, M

获取全文 获取全文 获取全文

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function 由 Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

获取全文 获取全文 获取全文