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1.
Association and mediation between educational attainment and respiratory diseases: a Mendelian randomization study.
Respir Res;
25(1): 115, 2024 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38448970
2.
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.
BMC Pediatr;
24(1): 104, 2024 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38341530
3.
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
J Hum Genet;
68(4): 239-246, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36482121
4.
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(6): 565-570, 2022 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35773756
5.
Multidisciplinary Outpatient Cancer Rehabilitation Can Improve Cancer Patients' Physical and Psychosocial Status-a Systematic Review.
Curr Oncol Rep;
22(12): 122, 2020 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33001322
6.
Comparison of hyperdry amniotic membrane transplantation and conjunctival autografting for primary pterygium.
BMC Ophthalmol;
18(1): 119, 2018 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29764389
7.
Comparison of stromal vascular fraction cell composition between Coleman fat and extracellular matrix/stromal vascular fraction gel.
Adipocyte;
13(1): 2360037, 2024 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38829527
8.
Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.
BMC Med Genomics;
17(1): 158, 2024 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38862963
9.
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Orphanet J Rare Dis;
19(1): 159, 2024 Apr 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38610036
10.
Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.
Clin Drug Investig;
43(12): 949-962, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37995087
11.
Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis.
Front Nutr;
10: 1124387, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37252234
12.
Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
Clin Chim Acta;
532: 29-36, 2022 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35588794
13.
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Sci Transl Med;
14(634): eabl6992, 2022 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35235340
14.
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.
Orphanet J Rare Dis;
17(1): 135, 2022 03 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35331292
15.
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Orphanet J Rare Dis;
17(1): 330, 2022 09 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36056359
16.
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
PLoS One;
17(3): e0265766, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35358224
17.
Characterization and phylogenetic analysis of the complete mitochondrial genome in Xiaoxiang chicken (Gallus gallus domesticus).
Mitochondrial DNA B Resour;
5(1): 699-700, 2020 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33366709
18.
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
Neurology;
95(23): e3129-e3137, 2020 12 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32943488
19.
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
Orphanet J Rare Dis;
15(1): 200, 2020 08 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32746869
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