Detalhe da pesquisa
1.
Causes and consequences of a complex recombinational landscape in the ant Cardiocondyla obscurior.
Genome Res
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839375
2.
Entirely noninvasive outcome prediction in central nervous system lymphomas using circulating tumor DNA.
Blood
; 143(6): 522-534, 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946299
3.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; 26(7): 101143, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641995
4.
Noninvasive minimal residual disease assessment in relapsed/refractory large B-cell lymphoma using digital droplet PCR.
Eur J Haematol
; 112(6): 957-963, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38369814
5.
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Brain
; 146(4): 1388-1402, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100962
6.
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
Brain
; 146(4): 1342-1356, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226386
7.
NOMAC-E2 shows a better contraceptive effectiveness than LNG combined oral contraceptives in women under 25: real-world PRO-E2 study.
Gynecol Endocrinol
; 39(1): 2162036, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617423
8.
NOMAC-E2 compares to LNG combined oral contraceptives in women over forty: real-world PRO-E2 study.
Gynecol Endocrinol
; 39(1): 2166032, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690019
9.
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
J Neurochem
; 157(4): 1331-1350, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090494
10.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100084
11.
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
Am J Med Genet A
; 185(2): 344-354, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33155358
12.
Unintended pregnancy in users of nomegestrol acetate and 17ß-oestradiol (NOMAC-E2) compared with levonorgestrel-containing combined oral contraceptives: final results from the PRO-E2 study.
Eur J Contracept Reprod Health Care
; 26(6): 447-453, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34651535
13.
Prospective controlled cohort study on the safety of a monophasic oral contraceptive containing nomegestrol acetate (2.5mg) and 17ß-oestradiol (1.5mg) (PRO-E2 study): risk of venous and arterial thromboembolism.
Eur J Contracept Reprod Health Care
; 26(6): 439-446, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34644228
14.
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.
Am J Hum Genet
; 101(3): 417-427, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886342
15.
Individual differences in envy experienced through perspective-taking involves functional connectivity of the superior frontal gyrus.
Cogn Affect Behav Neurosci
; 20(4): 783-797, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557135
16.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
17.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
18.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 108(12): 2385, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861176
19.
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
J Hum Genet
; 64(10): 1051-1054, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388109
20.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
J Hum Genet
; 64(8): 803-813, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31165786