Detalhe da pesquisa
1.
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
J Med Genet
; 60(11): 1133-1141, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460201
2.
Relationships between Circulating Biomarkers and Body Composition Parameters in Patients with Metabolic Syndrome: A Community-Based Study.
Int J Mol Sci
; 25(2)2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38255954
3.
[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Harefuah
; 162(6): 352-358, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394436
4.
Scoliosis and skeletal muscle mass are strongly associated with low back pain-related disability in humans: An evolutionary anthropology point of view.
Am J Hum Biol
; 34(8): e23757, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533002
5.
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
J Med Genet
; 56(5): 340-346, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30327448
6.
Growth and differentiation factor 15 is a biomarker for low back pain-associated disability.
Cytokine
; 117: 8-14, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776685
7.
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Neurochem Res
; 44(10): 2372-2384, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968303
8.
Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.
J Perinat Med
; 47(1): 30-34, 2018 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29813032
9.
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
Am J Med Genet A
; 173(1): 190-194, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862896
10.
Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
Am J Hum Genet
; 93(6): 1061-71, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268657
11.
A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.
Bioinformatics
; 29(2): 197-205, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23162081
12.
Analysis of the Associations of Measurements of Body Composition and Inflammatory Factors with Cardiovascular Disease and Its Comorbidities in a Community-Based Study.
Biomedicines
; 12(5)2024 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38791028
13.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
14.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
15.
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Am J Hum Genet
; 87(3): 371-5, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797691
16.
Medical genetics in Israel's diverse population.
Lancet
; 389(10088): 2453-2455, 2017 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495108
17.
Elevated circulating levels of IL-34 are strongly associated with osteoporosis.
Arch Osteoporos
; 18(1): 132, 2023 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947892
18.
Pro-Inflammatory Biomarkers Combined with Body Composition Display a Strong Association with Knee Osteoarthritis in a Community-Based Study.
Biomolecules
; 13(9)2023 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37759715
19.
The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia.
Children (Basel)
; 10(7)2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508669
20.
Performance of CellDetect for detection of bladder cancer: Comparison with urine cytology and UroVysion.
Urol Oncol
; 41(6): 296.e1-296.e8, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36642638