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1.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36271811
2.
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.
Clin Genet
; 97(5): 677-687, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31898314
3.
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
Clin Genet
; 95(2): 339-340, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30460678
4.
Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Front Mol Biosci
; 7: 135, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32766278
5.
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Genes (Basel)
; 11(1)2020 01 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31906484
6.
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Front Neurol
; 11: 41, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32117010
7.
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
Front Genet
; 10: 1074, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31737052
8.
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Front Genet
; 9: 7, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29434620
9.
Androgen-dependent alternative mRNA isoform expression in prostate cancer cells.
F1000Res
; 7: 1189, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30271587
10.
Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.
Genes (Basel)
; 7(10)2016 Oct 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-27775646
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