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American Journal of Medical Genetics, Part A 10

Showing records 1 to 10 | Display all abstracts in American Journal of Medical Genetics, Part A

69194 Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Arunrut T
American Journal of Medical Genetics, Part A 2016; 170: 2711-2718
68905 An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
Dimitri P
American Journal of Medical Genetics, Part A 2016; 170: 1918-1923
69194 Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Sabbadini M
American Journal of Medical Genetics, Part A 2016; 170: 2711-2718
68905 An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
De Franco E; Habeb AM
American Journal of Medical Genetics, Part A 2016; 170: 1918-1923
69194 Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Jain M
American Journal of Medical Genetics, Part A 2016; 170: 2711-2718
68905 An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
Gurbuz F
American Journal of Medical Genetics, Part A 2016; 170: 1918-1923
69194 Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Machol K; Scaglia F
American Journal of Medical Genetics, Part A 2016; 170: 2711-2718
68905 An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
Moussa K; Taha D
American Journal of Medical Genetics, Part A 2016; 170: 1918-1923
69194 Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes
Slavotinek A
American Journal of Medical Genetics, Part A 2016; 170: 2711-2718
68905 An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
Wales JK; Hogue J; Slavotinek A; Shetty A; Balasubramanian M
American Journal of Medical Genetics, Part A 2016; 170: 1918-1923

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