Detalhe da pesquisa
1.
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
J Hum Genet
; 68(2): 87-90, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224263
2.
Challenges in the diagnosis of the enigmatic primary adrenal leiomyosarcoma: two case reports and review of the literature.
BMC Endocr Disord
; 23(1): 276, 2023 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110958
3.
Association of urinary free cortisol with bone formation in patients with mild autonomous cortisol secretion.
Clin Endocrinol (Oxf)
; 94(4): 544-550, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296503
4.
R3hdml regulates satellite cell proliferation and differentiation.
EMBO Rep
; 20(11): e47957, 2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31524320
5.
Reply to Ren et al.: The role of a liver-specific mitochondrial carrier SLC25A47 in glucose homeostasis.
Proc Natl Acad Sci U S A
; 120(32): e2307922120, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523570
6.
p53-inducible DPYSL4 associates with mitochondrial supercomplexes and regulates energy metabolism in adipocytes and cancer cells.
Proc Natl Acad Sci U S A
; 115(33): 8370-8375, 2018 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061407
7.
Steroid metabolites for diagnosing and predicting clinicopathological features in cortisol-producing adrenocortical carcinoma.
BMC Endocr Disord
; 20(1): 173, 2020 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228607
8.
Syntroph diversity and abundance in anaerobic digestion revealed through a comparative core microbiome approach.
Appl Microbiol Biotechnol
; 103(15): 6353-6367, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31161391
9.
Manifestations of systemic lupus erythematosus in female patients with polysomy X: Possible roles of chromosome X.
Mod Rheumatol
; 29(1): 192-194, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27401488
10.
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
J Hum Genet
; 68(2): 111-112, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36456768
11.
Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area.
Cogn Neuropsychiatry
; 23(1): 1-14, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29199507
12.
Multihormonal pituitary adenoma concomitant with Pit-1 and Tpit lineage cells causing acromegaly associated with subclinical Cushing's disease: a case report.
BMC Endocr Disord
; 17(1): 54, 2017 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28865461
13.
SEVEN FAMILIAL DYSALBUMINEMIC HYPERTHYROXINEMIA CASES IN THREE UNRELATED JAPANESE FAMILIES AND HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF THE THYROXINE BINDING PROFILE.
Endocr Pract
; 23(11): 1325-1332, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28816534
14.
Multi-azole resistant Aspergillus fumigatus harboring Cyp51A TR46/Y121F/T289A isolated in Japan.
J Infect Chemother
; 22(8): 577-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26898666
15.
Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.
Pediatr Int
; 63(12): 1534-1536, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449117
16.
Eurytemora carolleeae in the Laurentian Great Lakes revealed by phylogenetic and morphological analysis.
J Great Lakes Res
; 42(4): 802-811, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27713595
17.
Microbial community assembly and succession on lake sturgeon egg surfaces as a function of simulated spawning stream flow rate.
Microb Ecol
; 66(3): 500-11, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23857377
18.
Antihypertensive Effects of Esaxerenone in Older Patients with Primary Aldosteronism.
Int J Hypertens
; 2023: 6453933, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36704237
19.
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
Hum Genome Var
; 10(1): 24, 2023 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673875
20.
Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.
Commun Biol
; 6(1): 787, 2023 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507476