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Results 11-20 of 53 (Search time: 0.043 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2018 | Novel Variants in the POU1F1 Beta Isoform Are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency | HOPPMANN, Julia; ROCKSTROH-LIPPOLD, Denise; GERGICS, Peter; NAKAGUMA, Marilena; CARVALHO, Luciani Renata Silveira; PFAEFFLE, Heike; JAMRA, Rami Abou; JORGE, Alexander; GUO, Michael H.; DAUBER, Andrew; KELLER, Eberhard; CAMPER, Sally A.; ARNHOLD, Ivo J. P.; PFAEFFLE, Roland |
| 2018 | Genetic Causes of Short Stature in Patients with Previously Diagnosed as Idiopathic Prenatal Short Stature | HOMMA, Thais; FREIRE, B.; FUNARI, M.; LERARIO, M.; MALAQUIAS, A.; JORGE, A. |
| 2018 | DEAH-Box Helicase 37defects (DXH37) Defects Are a Novel Cause of 46,XY Gonadal Dysgenesis | GOMES, Nathalia; SILVA, Thatiana; LERARIO, Antonio; BATISTA, Rafael Loch; FARIA JUNIOR, Jose Antonio; MORAES, Daniela; COSTA, Elaine Maria Frade; NISHI, Mirian; CARVALHO, Luciani Renata; FORCLAZ, Maria Veronica; PAPAZIAN, Regina; MARTINEZ-AGUAYO, Alejandro; PAULA, Leila Pedroso de; CARVALHO, Filomena Marino; VILAIN, Erick; BARSEGHYAN, Hayk Barseghyan; KEEGAN, Catherine; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho |
| 2018 | Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature | HOMMA, Thais; FREIRE, Bruna; RONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana; LERARIO, Antonio; ARNHOLD, Ivo; CANTON, Ana; SUGAYAMA, Sofia; BERTOLA, Debora; KIM, Chong; MALAQUIAS, Alexsandra; JORGE, Alexander |
| 2018 | Genetic Evaluation of Syndromic Short Stature Children Born Small for Gestational Age | HOMMA, T.; FREIRE, B.; HONJO, R.; DAUBER, A.; FUNARI, M.; LERARIO, A.; ARNHOLD, I.; CANTON, A.; SUGAYAMA, S.; BERTOLA, D.; KIM, C.; MALAQUIAS, A.; JORGE, A. |
| 2018 | High Prevalence of Nephrolithiasis and Hypercalciuria in Women with Osteogenesis Imperfecta | SIMOES, Vivian Rf; FERNANDES, Adriana M.; ROCHA-BRAZ, Manuela Gm; MARTIN, Regina M.; FERRAZ-DE-SOUZA, Bruno |
| 2018 | Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region | MACEDO, Delanie B.; FRANCA, Monica M.; MONTENEGRO, Luciana R.; CUNHA-SILVA, Marina; BESSA, Danielle S.; ABREU, Ana Paula; KAISER, Ursula B.; MENDONCA, Berenice B.; JORGE, Alexander A. L.; BRITO, Vinicius N.; LATRONICO, Ana Claudia |
| 2018 | Genetics of primary macronodular adrenal hyperplasia | FRAGOSO, Maria Candida Barisson Villares; CAVALCANTE, Isadora Pontes; FERREIRA, Amanda Meneses; MARIANI, Beatriz Marinho de Paula; LOTFI, Claudimara Ferini Pacicco |
| 2018 | Primary malignant tumors of the adrenal glands | ALMEIDA, Madson Q.; BEZERRA-NETO, Joao Evangelista; MENDONCA, Berenice B.; LATRONICO, Ana Claudia; V, Maria Candida B. Fragoso |
| 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. |