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1.
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
J Med Genet
; 54(6): 432-440, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28258187
2.
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
Wellcome Open Res
; 3: 46, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29900417
3.
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmol
; 95(3): 240-246, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27775217
4.
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
Eur J Hum Genet
; 23(6): 796-802, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205403
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