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Showing results 1 to 20 of 27
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Issue Date
Title
Author(s)
Advisor
Type
-
Fetal Rhd Genotyping From Maternal Plasma In A Population With A Highly Diverse Ethnic Background.
Machado, Isabela Nelly
;
Castilho, Lilian
;
Pellegrino, Jordão
;
Barini, Ricardo
-
Artigo de periódico
2005
Mutations In Sry And Wt1 Genes Required For Gonadal Development Are Not Responsible For Xy Partial Gonadal Dysgenesis.
Tagliarini, E B
;
Assumpção, J G
;
Scolfaro, M R
;
Mello, M P de
;
Maciel-Guerra, A T
;
Guerra Júnior, G
;
Hackel, C
-
Artigo de periódico
2006
Polymorphisms At Exon 4 Of P53 And The Susceptibility To Herpesvirus Types 6 And 1 Infection In Renal Transplant Recipients.
Leite, Janaína L
;
Manfrinatto, Juliana A
;
Mazzali, Marilda
;
Ward, Laura S
-
Artigo de periódico
2004
Lack Of Mutation In Exon 10 Of P53 Gene In Thyroid Tumors.
Santarosa, Patricia Lia
;
Granja, Fabiana
;
Morari, Elaine Cristina
;
Leite, Janaína Luisa
;
Assumpção, Ligia Vera Montalli da
;
Ward, Laura S
-
Artigo de periódico
2005
Band 3tambaú: A De Novo Mutation In The Ae1 Gene Associated With Hereditary Spherocytosis. Implications For Anion Exchange And Insertion Into The Red Blood Cell Membrane.
Lima, Paulo Roberto Moura
;
Baratti, Mariana Ozello
;
Chiattone, Maria Lúcia
;
Costa, Fernando Ferreira
;
Saad, Sara Teresinha Olalla
-
Artigo de periódico
2010
Novel Deletion Alleles Carrying Cyp21a1p/a2 Chimeric Genes In Brazilian Patients With 21-hydroxylase Deficiency.
Coeli, Fernanda B
;
Soardi, Fernanda C
;
Bernardi, Renan D
;
de Araújo, Marcela
;
Paulino, Luciana C
;
Lau, Ivy F
;
Petroli, Reginaldo J
;
de Lemos-Marini, Sofia H V
;
Baptista, Maria T M
;
Guerra-Júnior, Gil
;
de-Mello, Maricilda P
-
Artigo de periódico
2007
Exclusion Of Known Gene For Enamel Development In Two Brazilian Families With Amelogenesis Imperfecta.
Santos, Maria C L G
;
Hart, P Suzanne
;
Ramaswami, Mukundhan
;
Kanno, Cláudia M
;
Hart, Thomas C
;
Line, Sergio R P
-
Artigo de periódico
2008
A New Missense Mutation Found In The Flna Gene In A Family With Bilateral Periventricular Nodular Heterotopia (bpnh) Alters The Splicing Process.
Tsuneda, Simone S
;
Torres, Fabio R
;
Montenegro, Maria A
;
Guerreiro, Marilisa M
;
Cendes, Fernando
;
Lopes-Cendes, Iscia
-
Artigo de periódico
2013
Two Distinct Wt1 Mutations Identified In Patients And Relatives With Isolated Nephrotic Proteinuria.
Guaragna, Mara S
;
Lutaif, Anna Cristina G B
;
Piveta, Cristiane S C
;
Belangero, Vera M S
;
Maciel-Guerra, Andréa T
;
Guerra, Gil
;
De Mello, Maricilda P
-
Artigo de periódico
1995
Eleven Novel Mutations In The Factor Viii Gene From Brazilian Hemophilia A Patients.
Arruda, V R
;
Pieneman, W C
;
Reitsma, P H
;
Deutz-Terlouw, P P
;
Annichino-Bizzacchi, J M
;
Briët, E
;
Costa, F F
-
Artigo de periódico
2014
Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.
Brusius-Facchin, A C
;
Schwartz, I V D
;
Zimmer, C
;
Ribeiro, M G
;
Acosta, A X
;
Horovitz, D
;
Monlleó, I L
;
Fontes, M I B
;
Fett-Conte, A
;
Sobrinho, R P Oliveira
;
Duarte, A R
;
Boy, R
;
Mabe, P
;
Ascurra, M
;
de Michelena, M
;
Tylee, K L
;
Besley, G T N
;
Garreton, M C V
;
Giugliani, R
;
Leistner-Segal, S
-
Artigo de periódico
2013
New Mutation In The Myocilin Gene Segregates With Juvenile-onset Open-angle Glaucoma In A Brazilian Family.
Braghini, Carolina Ayumi
;
Neshich, Izabella Agostinho Pena
;
Neshich, Goran
;
Soardi, Fernanda Caroline
;
de Mello, Maricilda Palandi
;
Costa, Vital Paulino
;
de Vasconcellos, José Paulo Cabral
;
de Melo, Mônica Barbosa
-
Artigo de periódico
1997
Beta-spectrin Campinas: A Novel Shortened Beta-chain Variant Associated With Skipping Of Exon 30 And Hereditary Elliptocytosis.
Basserès, D S
;
Pranke, P H
;
Sales, T S
;
Costa, F F
;
Saad, S T
-
Artigo de periódico
1997
N-ras Gene Point Mutations In Brazilian Acute Myelogenous Leukemia Patients Correlate With A Poor Prognosis.
De Melo, M B
;
Lorand-Metze, I
;
Lima, C S
;
Saad, S T
;
Costa, F F
-
Artigo de periódico
1999
New Frameshift Mutation In The 5alpha-reductase Type 2 Gene In A Brazilian Patient With 5alpha-reductase Deficiency.
Ferraz, L F
;
Mathias Baptista, M T
;
Maciel-Guerra, A T
;
Júnior, G G
;
Hackel, C
-
Artigo de periódico
2000
Molecular Heterogeneity Of The A3 Subgroup.
Barjas-Castro, M L
;
Carvalho, M H
;
Locatelli, M F
;
Bordin, S
;
Saad, S T
-
Artigo de periódico
2001
Lack Of Mutations Of Exon 2 Of The Men1 Gene In Endocrine And Nonendocrine Sporadic Tumors.
Costa, S C
;
Nascimento, L S
;
Ferreira, F J
;
Mattos, P S
;
Camara-Lopes, L H
;
Ward, L S
-
Artigo de periódico
2001
Blood Group Genotyping In A Population Of Highly Diverse Ancestry.
Pellegrino, J
;
Castilho, L
;
Rios, M
;
De Souza, C A
-
Artigo de periódico
2003
No Evidence For Mutations In Exons 1, 8 And 18 Of The Patched Gene In Sporadic Skin Lesions Of Brazilian Patients.
Granja, F
;
Santarosa, P L
;
Leite, J L A A P
;
Ward, L S
-
Artigo de periódico
2002
Presence Of The Rhd Pseudogene And The Hybrid Rhd-ce-d(s) Gene In Brazilians With The D-negative Phenotype.
Rodrigues, A
;
Rios, M
;
Pellegrino, J
;
Costa, F F
;
Castilho, L
-
Artigo de periódico