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1.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Reprod Biol Endocrinol
; 21(1): 2, 2023 Jan 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36631813
2.
QUANTITATIVE ANALYSIS OF CHORIOCAPILLARIS ALTERATIONS IN SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN DIABETIC PATIENTS.
Retina
; 41(9): 1809-1818, 2021 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33411469
3.
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
BMC Med Genet
; 21(1): 26, 2020 02 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32028920
4.
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
Epilepsia
; 55(2): 370-8, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24372385
5.
Investigation on the effect of several parameters involved in the biodegradation of polyethylene (PE) and low-density polyethylene (LDPE) under various seawater environments.
Sci Total Environ
; 912: 168870, 2024 Feb 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38040377
6.
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.
Am J Med Genet A
; 161A(10): 2564-9, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23918416
7.
Effect of temperature and sunlight on the leachability potential of BPA and phthalates from plastic litter under marine conditions.
Sci Total Environ
; 894: 164954, 2023 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37336400
8.
Insights into the degradation mechanism of PET and PP under marine conditions using FTIR.
J Hazard Mater
; 447: 130796, 2023 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36669417
9.
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.
BMC Med Genomics
; 15(1): 165, 2022 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35883075
10.
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.
Mol Cytogenet
; 15(1): 42, 2022 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36192753
11.
Retinal Vascularization Analysis on Optical Coherence Tomography Angiography before and after Intraretinal or Subretinal Fluid Resorption in Exudative Age-Related Macular Degeneration: A Pilot Study.
J Clin Med
; 10(7)2021 Apr 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33917364
12.
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.
Mol Cytogenet
; 12: 5, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30774715
13.
New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.
Fertil Steril
; 108(4): 694-702, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28863940
14.
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.
Fertil Steril
; 106(1): 225-229.e11, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27016457
15.
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Eur J Med Genet
; 58(2): 51-8, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25497044
16.
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.
Appl Transl Genom
; 7: 19-25, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27054081
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