E-LIB Suche - Ergebnisse für: Nishi, Mirian Y

1

Beckwith-Wiedemann syndrome mimicking the classical form of..:

Martins, Jéssica Mallmann Erbes Schaefer ; Braga, Barbara Leitao ; Sampaio, Klevia Nunes Feitosa...
Archives of Endocrinology and Metabolism. 68 (2024) - p. , 2024

Link: https://doi.org/10.20945..

2

46,XY differences of sex development (DSD) due to 17β-hydro..:

, In: Genetic Steroid Disorders,

Gomes, Nathalia Lisboa ; Costa, Elaine M.F. ; Inacio, Marlene... - p. 289-299 , 2023

Link: https://doi.org/10.1016/..

3

List of contributors:

, In: Genetic Steroid Disorders,

Achermann, John C. ; Auchus, Richard J. ; Baquedano, Maria Sonia... - p. xiii-xv , 2023

Link: https://doi.org/10.1016/..

4

SAT322 Case report: Impact Of Combined Treatment To Prolong..:

de Magalhães, Isabelle P A ; de Sousa, Nathalia C ; Charchar, Helaine L S...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

5

High-throughput Sequencing to Identify Monogenic Etiologies..:

Crespo, Raiane P ; Rocha, Thais P ; Montenegro, Luciana R...
Journal of the Endocrine Society. 6 (2022) 9 - p. , 2022

Link: https://doi.org/10.1210/..

6

Contribution of Clinical and Genetic Approaches for Diagnos..:

Gomes, Nathalia Lisboa ; Batista, Rafael Loch ; Nishi, Mirian Y...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 5 - p. e1797-e1806 , 2022

Link: https://doi.org/10.1210/..

7

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/..

8

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/..

9

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/..

10

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/..

11

Combined pituitary hormone deficiency caused by PROP1 mutat..:

Correa, Fernanda A. ; Nakaguma, Marilena ; Madeira, João L. O....
Archives of Endocrinology and Metabolism. 63 (2019) 2 - p. 167-174 , 2019

Link: https://doi.org/10.20945..

12

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/..

13

Mutations in MAP3K1 that cause 46,XY disorders of sex devel..:

Chamberlin, Adam ; Huether, Robert ; Machado, Aline Z...
Human Molecular Genetics. 28 (2019) 10 - p. 1620-1628 , 2019

Link: https://doi.org/10.1093/..

14

ESR1 polymorphism (rs2234693) influences femoral bone mass ..:

Scalco, Renata C ; Trarbach, Ericka B ; Albuquerque, Edoarda V A...
Endocrine Connections. 8 (2019) 11 - p. 1513-1519 , 2019

Link: https://doi.org/10.1530/..

15

A 46,XX testicular disorder of sex development caused by a ..:

Gomes, Nathalia L. ; de Paula, Leila C.P. ; Silva, Juliana M....
Clinical Genetics. 95 (2018) 1 - p. 172-176 , 2018

Link: https://doi.org/10.1111/..