Rapid assembly of lambda phage contigs within YAC clones.

অনুযায়ী Pieretti, M, Tonlorenzi, R, Ballabio, A
প্রকাশিত 1991

Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.

অনুযায়ী Strisciuglio, P, Ballabio, A, Parenti, G
প্রকাশিত 1986

The effects of total parenteral nutrition on immunodepression due to malnutrition.

অনুযায়ী Dionigi, R, Ariszonta, Dominioni, L, Gnes, F, Ballabio, A
প্রকাশিত 1977

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

অনুযায়ী Basler, E, Grompe, M, Parenti, G, Yates, J, Ballabio, A
প্রকাশিত 1992

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

অনুযায়ী Daniele, A, Parenti, G, d'Addio, M, Andria, G, Ballabio, A, Meroni, G
প্রকাশিত 1998

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)

অনুযায়ী Kayserili, H., Cox, T., Cox, L., Basaran, S., Kilic, G., Ballabio, A., Yuksel-Apak, M.
প্রকাশিত 2001

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

অনুযায়ী Schiaffino, M V, Baschirotto, C, Pellegrini, G, Montalti, S, Tacchetti, C, De Luca, M, Ballabio, A
প্রকাশিত 1996

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

অনুযায়ী Segal, Y, Peissel, B, Renieri, A, de Marchi, M, Ballabio, A, Pei, Y, Zhou, J
প্রকাশিত 1999

The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

অনুযায়ী Auricchio, A., Brancolini, V., Casari, G., Milla, P. J., Smith, V. V., Devoto, M., Ballabio, A.
প্রকাশিত 1996

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

অনুযায়ী Mastroianni, N., Bettinelli, A., Bianchetti, M., Colussi, G., De Fusco, M., Sereni, F., Ballabio, A., Casari, G.
প্রকাশিত 1996

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

অনুযায়ী Ballabio, A, Parenti, G, Carrozzo, R, Sebastio, G, Andria, G, Buckle, V, Fraser, N, Craig, I, Rocchi, M, Romeo, G
প্রকাশিত 1987

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

অনুযায়ী De Michele, G, De Fusco, M, Cavalcanti, F, Filla, A, Marconi, R, Volpe, G, Monticelli, A, Ballabio, A, Casari, G, Cocozza, S
প্রকাশিত 1998

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

অনুযায়ী Meitinger, T, Heye, B, Petit, C, Levilliers, J, Golla, A, Moraine, C, Dalla Piccola, B, Sippell, W G, Murken, J, Ballabio, A
প্রকাশিত 1990

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

অনুযায়ী Ballabio, A, Bardoni, B, Carrozzo, R, Andria, G, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, Gimelli, G, Fraccaro, M
প্রকাশিত 1989

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane.

অনুযায়ী Monti, E, Bassi, M T, Papini, N, Riboni, M, Manzoni, M, Venerando, B, Croci, G, Preti, A, Ballabio, A, Tettamanti, G, Borsani, G
প্রকাশিত 2000

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implicat...

অনুযায়ী Bione, S, Sala, C, Manzini, C, Arrigo, G, Zuffardi, O, Banfi, S, Borsani, G, Jonveaux, P, Philippe, C, Zuccotti, M, Ballabio, A, Toniolo, D
প্রকাশিত 1998

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

অনুযায়ী Scolari, F, Puzzer, D, Amoroso, A, Caridi, G, Ghiggeri, G M, Maiorca, R, Aridon, P, De Fusco, M, Ballabio, A, Casari, G
প্রকাশিত 1999

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

অনুযায়ী Bassi, M T, Ramesar, R S, Caciotti, B, Winship, I M, De Grandi, A, Riboni, M, Townes, P L, Beighton, P, Ballabio, A, Borsani, G
প্রকাশিত 1999

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.

অনুযায়ী MacKenzie, J J, Fitzpatrick, J, Babyn, P, Ferrero, G B, Ballabio, A, Billingsley, G, Bulman, D E, Strasberg, P, Ray, P N, Costa, T
প্রকাশিত 1996

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

অনুযায়ী Jonsson, J J, Renieri, A, Gallagher, P G, Kashtan, C E, Cherniske, E M, Bruttini, M, Piccini, M, Vitelli, F, Ballabio, A, Pober, B R
প্রকাশিত 1998