Search
Mostrar filtros
Add filters:
Use filters to refine the search results.
Results 1-8 of 8 (Search time: 0.027 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2018 | A novel mutation in PROP1 c.109+1G > A identified by target gene panel in patients with congenital growth hormone deficiency | NAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CORREA, F. A.; CARVALHO, L. R. S.; ARNHOLD, I. J. P. |
| 2018 | Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects | SILVA, Juliana M.; BATISTA, Rafael Loch; RODRIGUES, Andresa De Santi; NISHI, Mirian Y.; COSTA, Elaine M. F.; DOMENICE, Sorahia; CARVALHO, Luciani R. S.; MENDONCA, Berenice B. |
| 2018 | Novel SUZ12 mutations in Weaver-like syndrome | IMAGAWA, Eri; ALBUQUERQUE, Edoarda V. A.; ISIDOR, Bertrand; MITSUHASHI, Satomi; MIZUGUCHI, Takeshi; MIYATAKE, Satoko; TAKATA, Atsushi; MIYAKE, Noriko; BOGUSZEWSKI, Margaret C. S.; BOGUSZEWSKI, Cesar L.; LERARIO, Antonio M.; FUNARI, Mariana A.; JORGE, Alexander A. L.; MATSUMOTO, Naomichi |
| 2018 | Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development | SPROLL, Patrick; EID, Wassim; GOMES, Camila R.; MENDONCA, Berenice B.; GOMES, Nathalia L.; COSTA, Elaine M. -F.; BIASON-LAUBER, Anna |
| 2018 | Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients | FREIRE, Bruna L.; HOMMA, Thais K.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; LEAL, Aline M.; VELLOSO, Elvira D. R. P.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L. |
| 2018 | Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature | HISADO-OLIVA, Alfonso; RUZAFA-MARTIN, Alba; SENTCHORDI, Lucia; FUNARI, Mariana F. A.; BEZANILLA-LOPEZ, Carolina; ALONSO-BERNALDEZ, Marta; BARRAZA-GARCIA, Jimena; RODRIGUEZ-ZABALA, Maria; LERARIO, Antonio M.; BENITO-SANZ, Sara; AZA-CARMONA, Miriam; CAMPOS-BARROS, Angel; JORGE, Alexander A. L.; HEATH, Karen E. |
| 2018 | Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development | BAETENS, Dorien; GURAN, Tulay; MENDONCA, Berenice B.; GOMES, Nathalia L.; CAUWER, Lode De; PEELMAN, Frank; VERDIN, Hannah; VUYLSTEKE, Marnik; LINDEN, Malaika Van der; STOOP, Hans; LOOIJENGA, Leendert H.; BOSSCHER, Karolien De; COOLS, Martine; BAERE, Elfride De |
| 2018 | Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing | FRANCA, M. M.; FUNARI, M. F. A.; NISHI, M. Y.; NARCIZO, A. M.; DOMENICE, S.; COSTA, E. M. F.; LERARIO, A. M.; MENDONCA, B. B. |
- previous
- 1
- next