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1.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37531237
2.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
J Med Genet
; 61(2): 186-195, 2024 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37734845
3.
Dynamic Structural Changes and Thermodynamics in Phase Separation Processes of an Intrinsically Disordered-Ordered Protein Model.
Angew Chem Int Ed Engl
; 61(3): e202112738, 2022 01 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34806270
4.
Self-Assembly Toolbox of Tailored Supramolecular Architectures Based on an Amphiphilic Protein Library.
Small
; 15(30): e1900163, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31173449
5.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38297832
6.
Programming protein phase-separation employing a modular library of intrinsically disordered precision block copolymer-like proteins creating dynamic cytoplasmatic compartmentalization.
Biomaterials
; 299: 122165, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37290157
7.
Episignature analysis of moderate effects and mosaics.
Eur J Hum Genet
; 31(9): 1032-1039, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37365401
8.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37808847
9.
Directed Assembly of Elastin-like Proteins into defined Supramolecular Structures and Cargo Encapsulation In Vitro.
J Vis Exp
; (158)2020 04 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32338656
10.
Adjustable Bioorthogonal Conjugation Platform for Protein Studies in Live Cells Based on Artificial Compartments.
ACS Synth Biol
; 9(4): 827-842, 2020 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-32130855
11.
Multiplexed antibody detection from blood sera by immobilization of in vitro expressed antigens and label-free readout via imaging reflectometric interferometry (iRIf).
Biosens Bioelectron
; 115: 97-103, 2018 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29803867
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