Results 131 to 140 of about 10,955 (198)

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. [PDF]

Int J Mol Sci, 2017
Bonatti F, Adorni A, Matichecchia A, Mozzoni P, Uliana V, Pisani F, Garavelli L, Graziano C, Gnoli M, Carli D, Bigoni S, Boschi E, Martorana D, Percesepe A.   +13 more
europepmc   +1 more source

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. [PDF]

BMC Med Genet, 2015
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A.   +24 more
europepmc   +1 more source

JUAN RULFO: CRITICA RECIENTE

Revista Iberoamericana, 1989
openaire   +2 more sources

El gallo de oro y otros textos de Juan Rulfo [PDF]

, 1981
Leal, Luis
core   +1 more source

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. [PDF]

Mol Cytogenet, 2014
Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A.   +23 more
europepmc   +1 more source

Zabalgoitia Herrera, Mauricio. "Fantasmas de la nueva palabra. Representación y límite en literaturas de América Latina" [PDF]

, 2016
Ritondale, Elena
core   +2 more sources

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations. [PDF]

Front Immunol, 2017
Martorana D, Bonatti F, Mozzoni P, Vaglio A, Percesepe A.   +4 more
europepmc   +1 more source

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. [PDF]

J Med Genet, 2013
Di Gregorio E, Bianchi FT, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A.   +27 more
europepmc   +1 more source