Detalhe da pesquisa
1.
Safe and just Earth system boundaries.
Nature
; 619(7968): 102-111, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37258676
2.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
3.
Efficient epoxidation over dinuclear sites in titanium silicalite-1.
Nature
; 586(7831): 708-713, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33116285
4.
Biallelic truncating variants in VGLL2 cause syngnathia in humans.
J Med Genet
; 60(11): 1084-1091, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37666660
5.
Measuring Objective and Subjective Sleep during Lisdexamfetamine Treatment of Acute Methamphetamine Withdrawal: A Feasibility Study.
Eur Addict Res
; 30(2): 121-125, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498995
6.
Platinum(IV) Prodrugs Incorporating an Indole-Based Derivative, 5-Benzyloxyindole-3-Acetic Acid in the Axial Position Exhibit Prominent Anticancer Activity.
Int J Mol Sci
; 25(4)2024 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396859
7.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413283
8.
Prenatal ozone exposure programs a sexually dimorphic susceptibility to high-fat diet in adolescent Long Evans rats.
FASEB J
; 36(12): e22664, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36412511
9.
Elephant rewilding affects landscape openness and fauna habitat across a 92-year period.
Ecol Appl
; 33(3): e2810, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694991
10.
Improving sleep health management in primary care: A potential role for community nurses?
J Adv Nurs
; 79(6): 2236-2249, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756941
11.
How registered nurses are measuring respiratory rates in adult acute care health settings: An integrative review.
J Clin Nurs
; 32(15-16): 4515-4527, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097417
12.
Synthesis and Characterisation of Fluorescent Novel Pt(II) Cyclometallated Complexes with Anticancer Activity.
Int J Mol Sci
; 24(9)2023 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175756
13.
Synthesis and Characterisation of Platinum(II) Diaminocyclohexane Complexes with Pyridine Derivatives as Anticancer Agents.
Int J Mol Sci
; 24(24)2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38138979
14.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
15.
A global agenda for advancing freshwater biodiversity research.
Ecol Lett
; 25(2): 255-263, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854211
16.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276377
17.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
18.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
19.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
20.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804