Search
Mostrar filtros
Add filters:
Use filters to refine the search results.
Results 1-7 of 7 (Search time: 0.216 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2011 | 46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome | ARNHOLD, Ivo J. P.; MELO, Karla; COSTA, Elaine M. F.; DANILOVIC, Debora; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, Berenice B. |
| 2019 | Targeted sequencing identifies novel variants in common and rare MODY genes | SANTANA, Lucas S. de; CAETANO, Lilian A.; COSTA-RIQUETTO, Aline D.; FRANCO, Pedro C.; DOTTO, Renata P.; REIS, Andre F.; WEINERT, Leticia S.; SILVEIRO, Sandra P.; VENDRAMINI, Marcio F.; PRADO, Flaviene A. do; ABRAHAO, Giovanna C. P.; ALMEIDA, Ana Gregoria F. P. de; TAVARES, Maria da G. Rodrigues; GONCALVES, Wagner Rodrigo B.; SANTOMAURO JUNIOR, Augusto C.; HALPERN, Bruno; JORGE, Alexander A. L.; NERY, Marcia; TELES, Milena G. |
| 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. |
| 2016 | Nutritional Aspects of Noonan Syndrome and Noonan-Related Disorders | SILVA, Fernanda Marchetto da; JORGE, Alexander Augusto; MALAQUIAS, Alexandra; PEREIRA, Alexandre da Costa; YAMAMOTO, Guilherme Lopes; KIM, Chong Ae; BERTOLA, Debora |
| 2015 | Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome | YAMAMOTO, Guilherme Lopes; AGUENA, Meire; GOS, Monika; HUNG, Christina; PILCH, Jacek; FAHIMINIYA, Somayyeh; ABRAMOWICZ, Anna; CRISTIAN, Ingrid; BUSCARILLI, Michelle; NASLAVSKY, Michel Satya; MALAQUIAS, Alexsandra C.; ZATZ, Mayana; BODAMER, Olaf; MAJEWSKI, Jacek; JORGE, Alexander A. L.; PEREIRA, Alexandre C.; KIM, Chong Ae; PASSOS-BUENO, Maria Rita; BERTOLA, Debora Romeo |
| 2021 | SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling | LIN, Yuh-Charn; NICETA, Marcello; MUTO, Valentina; VONA, Barbara; PAGNAMENTA, Alistair T.; MAROOFIAN, Reza; BEETZ, Christian; DUYVENVOORDE, Hermine van; DENTICI, Maria Lisa; LAUFFER, Peter; VALLIAN, Sadeq; CIOLFI, Andrea; PIZZI, Simone; BAUER, Peter; GRUENING, Nana-Maria; BELLACCHIO, Emanuele; FATTORE, Andrea Del; PETRINI, Stefania; SHAHEEN, Ranad; TIOSANO, Dov; HALLOUN, Rana; Ben Pode-Shakked; ALBAYRAK, Hatice Mutlu; ISIK, Emreguel; WIT, Jan M.; DITTRICH, Marcus; FREIRE, Bruna L.; BERTOLA, Debora R.; JORGE, Alexander A. L.; BAREL, Ortal; SABIR, Ataf H.; TENAIJI, Amal M. J. Al; TAJI, Sulaima M.; AL-SANNAA, Nouriya; AL-ABDULWAHED, Hind; DIGILIO, Maria Cristina; IRVING, Melita; ANIKSTER, Yair; BHAVANI, Gandham S. L.; GIRISHA, Katta M.; HAAF, Thomas; TAYLOR, Jenny C.; DALLAPICCOLA, Bruno; ALKURAYA, Fowzan S.; YANG, Ruey-Bing; TARTAGLIA, Marco |
| 2021 | Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile | NORONHA, Renata M.; VILLARES, Sandra M. F.; TORRES, Natalia; QUEDAS, Elisangela P. S.; HOMMA, Thais Kataoka; ALBUQUERQUE, Edoarda V. A.; MORAES, Michelle B.; FUNARI, Mariana F. A.; BERTOLA, Debora R.; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C. |
- previous
- 1
- next