Handbook of infrared astronomy /

Por Glass, I. S.
Publicado em 1999

X linked mental retardation.

Por Glass, I A
Publicado em 1991

Reye's syndrome: massive fatty metamorphosis of the liver with acute encephalopathy.

Por Barr, R., Glass, I. H., Chawla, G. S.
Publicado em 1968

Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Por Glass, I A, Stormer, P, Oei, P T, Hacking, E, Cotter, P D
Publicado em 1998

Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

Por Glass, I A, Swindlehurst, C A, Aitken, D A, McCrea, W, Boyd, E
Publicado em 1989

Investigation of a female manifesting Becker muscular dystrophy.

Por Glass, I A, Nicholson, L V, Watkiss, E, Johnson, M A, Roberts, R G, Abbs, S, Brittain-Jones, S, Boddie, H G
Publicado em 1992

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

Por Flanagan, S, Munns, C, Hayes, M, Williams, B, Berry, M, Vickers, D, Rao, E, Rappold, G, Batch, J, Hyland, V, Glass, I
Publicado em 2002

Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing

Por Bachmann-Gagescu, R, Dempsey, J, Phelps, IG, Isabella, C, O'Day, D, O'Roak, B, Shendure, J, Glass, I, Doherty, D
Publicado no Cilia (2015)

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Por Glass, I A, Good, P, Coleman, M P, Fullwood, P, Giles, M G, Lindsay, S, Nemeth, A H, Davies, K E, Willshaw, H A, Fielder, A
Publicado em 1993

Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy

Por Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., Trnka, P.
Publicado em 2010

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

Por Ruf, R, Berkman, J, Wolf, M, Nurnberg, P, Gattas, M, Ruf, E, Hyland, V, Kromberg, J, Glass, I, Macmillan, J, Otto, E, Nurnberg, G, Lucke, B, Hennies, H, Hildebrandt, F
Publicado em 2003

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Por Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J. C.
Publicado em 2001

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Por Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Swaid, A Al, Shahwan, S Al, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Publicado em 2006

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

Por Suthers, G. K., Mulley, J. C., Voelckel, M. A., Dahl, N., Väisänen, M. L., Steinbach, P., Glass, I. A., Schwartz, C. E., van Oost, B. A., Thibodeau, S. N., Haites, N. E., Oostra, B. A., Giné, R., Carballo, M., Morris, C. P., Hopwood, J. J., Sutherland, G. R.
Publicado em 1991

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Por Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Publicado em 2009