I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
Mariana F A Funari
136
results:
Search for persons
X
Format
Online (136)
Mediatypes
Articles (Online) (117)
Bookchapter (Online) (2)
OpenAccess-fulltext (17)
Sorted by: Relevance
Sorted by: Year
?
1
Identification of a second genetic alteration in patients w..:
Dantas, Naiara C B
;
Funari, Mariana F A
;
Lerário, Antonio M
...
European Journal of Endocrinology. 189 (2023) 3 - p. 387-395 , 2023
Link:
https://doi.org/10.1093/..
?
2
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Br..:
Fagundes, Gustavo F C
;
Freitas-Castro, Felipe
;
Santana, Lucas S
...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 8 - p. 2105-2114 , 2023
Link:
https://doi.org/10.1210/..
?
3
Targeted massively parallel sequencing panel to diagnose ge..:
Narcizo, Amanda M.
;
Cardoso, Lais C.
;
Benedetti, Anna F.F.
...
Clinics. 77 (2022) - p. 100132 , 2022
Link:
https://doi.org/10.1016/..
?
4
Screening of targeted panel genes in Brazilian patients wit..:
França, Monica M.
;
Funari, Mariana F. A.
;
Lerario, Antonio M.
...
PLOS ONE. 15 (2020) 10 - p. e0240795 , 2020
Link:
https://doi.org/10.1371/..
?
5
Noonan syndrome patients beyond the obvious phenotype: A po..:
Noronha, Renata M.
;
Villares, Sandra M F
;
Torres, Natalia
...
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 774-780 , 2020
Link:
https://doi.org/10.1002/..
?
6
Clinical and Molecular Description of 16 Families With Hete..:
Sentchordi-Montané, Lucía
;
Benito-Sanz, Sara
;
Aza-Carmona, Miriam
...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 8 - p. 2654-2666 , 2020
Link:
https://doi.org/10.1210/..
?
7
Two rare loss-of-function variants in the STAG3 gene leadin..:
França, Monica M.
;
Nishi, Mirian Y.
;
Funari, Mariana F.A.
...
European Journal of Medical Genetics. 62 (2019) 3 - p. 186-189 , 2019
Link:
https://doi.org/10.1016/..
?
8
Multigene Sequencing Analysis of Children Born Small for Ge..:
Freire, Bruna L
;
Homma, Thais K
;
Funari, Mariana F A
...
The Journal of Clinical Endocrinology & Metabolism. 104 (2019) 6 - p. 2023-2030 , 2019
Link:
https://doi.org/10.1210/..
?
9
Evaluation of SHOX defects in the era of next‐generation se..:
Funari, Mariana F.A.
;
de Barros, Juliana S.
;
Santana, Lucas S.
...
Clinical Genetics. 96 (2019) 3 - p. 261-265 , 2019
Link:
https://doi.org/10.1111/..
?
10
Growth Hormone insensitivity (Laron syndrome): Report of a ..:
Villela, Thais R.
;
Freire, Bruna L.
;
Braga, Nathalia T. P.
...
Genetics and Molecular Biology. 42 (2019) 4 - p. , 2019
Link:
https://doi.org/10.1590/..
?
11
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause o..:
Franca, Monica M
;
Han, Xingfa
;
Funari, Mariana F A
...
The Journal of Clinical Endocrinology & Metabolism. 104 (2019) 7 - p. 2827-2841 , 2019
Link:
https://doi.org/10.1210/..
?
12
Genetic diagnosis of congenital hypopituitarism by a target..:
Nakaguma, Marilena
;
Correa, Fernanda A
;
Santana, Lucas S
...
Endocrine Connections. 8 (2019) 5 - p. 590-595 , 2019
Link:
https://doi.org/10.1530/..
?
13
Mutations in C-natriuretic peptide (NPPC): a novel cause of..:
Hisado-Oliva, Alfonso
;
Ruzafa-Martin, Alba
;
Sentchordi, Lucia
...
Genetics in Medicine. 20 (2018) 1 - p. 91-97 , 2018
Link:
https://doi.org/10.1038/..
?
14
Pathogenic copy number variants in patients with congenital..:
Correa, Fernanda A.
;
Jorge, Alexander AL
;
Nakaguma, Marilena
...
Clinical Endocrinology. 88 (2018) 3 - p. 425-431 , 2018
Link:
https://doi.org/10.1111/..
?
15
Homozygous loss of function BRCA1 variant causing a Fanconi..:
Freire, Bruna L.
;
Homma, Thais K.
;
Funari, Mariana F.A.
...
European Journal of Medical Genetics. 61 (2018) 3 - p. 130-133 , 2018
Link:
https://doi.org/10.1016/..
1-15