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1.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32427345
2.
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Front Med (Lausanne)
; 10: 1096869, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36844206
3.
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
Am J Med Genet A
; 158A(10): 2545-50, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22887642
4.
Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.
Am J Med Genet A
; 146A(15): 1955-62, 2008 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18627056
5.
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.
Int J Pediatr Otorhinolaryngol
; 86: 27-33, 2016 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-27260575
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