Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-5 of 5 (Search time: 0.028 seconds).
Issue DateTitleAuthor(s)
2021Congenital chromoanagenesis in the routine postnatal chromosomal microarray analysesVILLELA, Darine; MAZZONETTO, Patricia C.; MIGLIAVACCA, Michele P.; PERRONE, Eduardo; GUIDA, Gustavo; MILANEZI, Maria Fernanda G.; JORGE, Alexander A. L.; RIBEIRO-BICUDO, Lucilene A.; KOK, Fernando; CAMPAGNARI, Francine; ROSSO-GIULIANI, Liane de; COSTA, Silvia Souza da; VIANNA-MORGANTE, Angela M.; PEARSON, Peter L.; KREPISCHI, Ana C. V.; ROSENBERG, Carla
2021High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiencyGERGICS, Peter; SMITH, Cathy; BANDO, Hironori; JORGE, Alexander A. L.; ROCKSTROH-LIPPOLD, Denise; VISHNOPOLSKA, Sebastian A.; CASTINETTI, Frederic; MAKSUTOVA, Mariam; CARVALHO, Luciani Renata Silveira; HOPPMANN, Julia; MAYER, Julian Martinez; ALBAREL, Frederique; BRASLAVSKY, Debora; KESELMAN, Ana; BERGADA, Ignacio; MARTI, Marcelo A.; SAVEANU, Alexandru; BARLIER, Anne; JAMRA, Rami Abou; GUO, Michael H.; DAUBER, Andrew; NAKAGUMA, Marilena; MENDONCA, Berenice B.; JAYAKODY, Sajini N.; OZEL, A. Bilge; FANG, Qing; MA, Qianyi; LI, Jun Z.; BRUE, Thierry; MILLAN, Maria Ines Perez; ARNHOLD, Ivo J. P.; PFAEFFLE, Roland; KITZMAN, Jacob O.; CAMPER, Sally A.
2021Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic SpectrumNAKAGUMA, Marilena; FERREIRA, Nathalia Garcia Bianchi Pereira; BENEDETTI, Anna Flavia Figueredo; MADI, Mariana Cotarelli; SILVA, Juliana Moreira; LI, Jun Z.; MA, Qianyi; OZEL, Ayse Bilge; FANG, Qing; NARCIZO, Amanda de Moraes; CARDOSO, Lais Cavalca; MONTENEGRO, Luciana Ribeiro; FUNARI, Mariana Ferreira de Assis; NISHI, Mirian Yumie; ARNHOLD, Ivo Jorge Prado; JORGE, Alexander Augusto de Lima; MENDONCA, Berenice Bilharinho de; CAMPER, Sally Ann; CARVALHO, Luciani R.
2021SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingLIN, 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
2021Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profileNORONHA, 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