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1.
Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.
Hemoglobin
; 39(1): 55-7, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25476779
2.
Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.
Cells
; 11(13)2022 06 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-35805171
3.
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Elife
; 112022 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36453528
4.
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
Eur J Pediatr
; 170(12): 1529-34, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21499692
5.
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
J Clin Endocrinol Metab
; 106(1): e182-e191, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33098647
6.
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.
J Neurol Sci
; 395: 95-105, 2018 12 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30308447
7.
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.
J Allergy Clin Immunol
; 126(2): 392-4, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20584545
8.
Are ALOX5AP gene SNPs a risk or protective factor for stroke?
Gene
; 548(1): 56-60, 2014 Sep 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25010723
9.
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
Hormones (Athens)
; 11(3): 361-7, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22908070
10.
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
Genet Test Mol Biomarkers
; 13(2): 249-56, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19371226
11.
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.
J Genet
; 92(3): 577-81, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24371179
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