Detalhe da pesquisa
1.
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms.
Nucleic Acids Res
; 51(D1): D1168-D1178, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350663
2.
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
Prenat Diagn
; 44(2): 247-250, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596871
3.
Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.
J Assist Reprod Genet
; 41(1): 171-184, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38102500
4.
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
Hum Genet
; 142(3): 363-377, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526900
5.
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
Hum Reprod
; 38(8): 1628-1642, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218343
6.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Am J Hum Genet
; 105(6): 1102-1111, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31679651
7.
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
Hum Genet
; 140(2): 361-380, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728808
8.
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Genet Med
; 23(7): 1225-1233, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772221
9.
Low-pass genome sequencing: a validated method in clinical cytogenetics.
Hum Genet
; 139(11): 1403-1415, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451733
10.
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Genet Med
; 22(3): 500-510, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447483
11.
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
Genet Med
; 20(7): 697-707, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095815
12.
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.
Genet Med
; 18(9): 940-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820068
13.
Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation.
Genomics
; 104(3): 170-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25086333
14.
A robust approach for blind detection of balanced chromosomal rearrangements with whole-genome low-coverage sequencing.
Hum Mutat
; 35(5): 625-36, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610732
15.
Enhanced Thermoelectric Performance in Vacancy-filling Heuslers due to Kondo-like Effect.
Adv Mater
; : e2405858, 2024 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38899584
16.
Photothermal therapy: a novel potential treatment for prostate cancer.
Biomater Sci
; 12(10): 2480-2503, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592730
17.
Decreasing the Carrier Concentration of ZrNiSn: An Opposite Way to the Best N-Type Half-Heusler Thermoelectrics.
Small Methods
; 8(1): e2300829, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728191
18.
Fertility preservation in pediatric healthcare: a review.
Front Endocrinol (Lausanne)
; 14: 1147898, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37206440
19.
Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.
Genes (Basel)
; 14(7)2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510263
20.
Single-cell analysis reveals specific neuronal transition during mouse corticogenesis.
Front Cell Dev Biol
; 11: 1209320, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38020907