Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
2.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
3.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
4.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356149
5.
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Clin Genet
; 104(3): 344-349, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157980
6.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37711075
7.
Rationally Modulating the Functions of Ni3 Sn2 -NiSnOx Nanocomposite Electrocatalysts towards Enhanced Hydrogen Evolution Reaction.
Angew Chem Int Ed Engl
; 62(19): e202301562, 2023 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36880801
8.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clin Genet
; 101(5-6): 530-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322404
9.
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Am J Med Genet A
; 188(2): 648-657, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761517
10.
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Am J Med Genet A
; 185(7): 1972-1980, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797191
11.
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Am J Med Genet A
; 185(7): 2241-2249, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964184
12.
Binuclear Metal Phthalocyanines with Enhanced Activity in the Oxygen Evolution Reaction: A First-Principles Study.
J Phys Chem Lett
; 15(12): 3336-3344, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498308
13.
Promoting C-C coupling for CO2 reduction on Cu2O electrocatalysts with atomically dispersed Rh atoms.
Chem Commun (Camb)
; 60(42): 5550-5553, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38700243
14.
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.
Res Sq
; 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38464263
15.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
HGG Adv
; 4(3): 100188, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37124138
16.
Heterogeneous nuclear ribonucleoprotein K is overexpressed in acute myeloid leukemia and causes myeloproliferation in mice via altered Runx1 splicing.
NAR Cancer
; 4(4): zcac039, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36518526
17.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248
18.
Discovery of potential Toxoplasma gondii CDPK1 inhibitors with new scaffolds based on the combination of QSAR and scaffold-hopping method with in vitro validation.
Chem Biol Drug Des
; 95(5): 476-484, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31436911