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| Issue Date | Title | Author(s) |
|---|---|---|
| 2019 | Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR | NAKAGUMA, Marilena; CORREA, Fernanda A.; SANTANA, Lucas S.; BENEDETTI, Anna F. F.; V, Ricardo Perez; HUAYLLAS, Martha K. P.; MIRAS, Mirta B.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; MENDONCA, Berenice B.; CARVALHO, Luciani R. S.; JORGE, Alexander A. L.; ARNHOLD, Ivo J. P. |
| 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. |
| 2020 | Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature | HOMMA, Thais K.; FREIRE, Bruna L.; HONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana F. A.; LERARIO, Antonio M.; ALBUQUERQUE, Edoarda V. A.; VASQUES, Gabriela A.; BERTOLA, Debora R.; KIM, Chong A.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L. |
| 2020 | Targeted massively parallel sequencing for congenital generalized lipodystrophy | COSTA-RIQUETTO, Aline D.; SANTANA, Lucas S.; CAETANO, Lilian A.; LERARIO, Antonio M.; CORREIA-DEUR, Joya E. M.; BERTOLA, Debora R.; KIM, Chong A.; NERY, Marcia; JORGE, Alexander A. L.; TELES, Milena G. |
| 2020 | Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants | SENTCHORDI-MONTANE, Lucia; BENITO-SANZ, Sara; AZA-CARMONA, Miriam; PEREDA, Arrate; PARRON-PAJARES, Manuel; TORRE, Carolina de la; VASQUES, Gabriela A.; FUNARI, Mariana F. A.; TRAVESSA, Andre M.; DIAS, Patricia; SUAREZ-ORTEGA, Larisa; GONZALEZ-BUITRAGO, Jesus; PORTILLO-NAJERA, Nancy Elizabeth; LLANO-RIVAS, Isabel; MARTIN-FRIAS, Maria; RAMIREZ-FERNANDEZ, Joaquin; POZO, Jaime Sanchez del; GARZON-LORENZO, Lucia; MARTOS-MORENO, Gabriel A.; ALFARO-IZNAOLA, Cristina; MULERO-COLLANTES, Ines; RUIZ-OCANA, Pablo; CASANO-SANCHO, Paula; PORTELA, Ana; RUIZ-PEREZ, Lorea; POZO, Angela del; VALLESPIN, Elena; SOLIS, Mario; LERARIO, Antonio M.; GONZALEZ-CASADO, Isabel; ROS-PEREZ, Purificacion; NANCLARES, Guiomar Perez de; JORGE, Alexander A. L.; HEATH, Karen E. |
| 2019 | Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency | FRANCA, Monica M.; HAN, Xingfa; FUNARI, Mariana F. A.; LERARIO, Antonio M.; NISHI, Mirian Y.; FONTENELE, Eveline G. P.; DOMENICE, Sorahia; JORGE, Alexander A. L.; GARCIA-GALIANO, David; ELIAS, Carol F.; MENDONCA, Berenice B. |
| 2020 | Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis | ROCHA-BRAZ, Manuela G. M.; FRANCA, Monica M.; FERNANDES, Adriana M.; LERARIO, Antonio M.; ZANARDO, Evelin A.; SANTANA, Lucas S. de; KULIKOWSKI, Leslie D.; MARTIN, Regina M.; MENDONCA, Berenice B.; FERRAZ-DE-SOUZA, Bruno |
| 2023 | Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability | DANTAS, Naiara C. B.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; ANDRADE, Nathalia L. M.; REZENDE, Raissa C.; CELLIN, Laurana P.; ALVES, Cresio; CRISOSTOMO, Lindiane G.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice; SCALCO, Renata C.; JORGE, Alexander A. L. |
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