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1.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32750457
2.
A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.
Int J Biochem Cell Biol
; 117: 105625, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31586593
3.
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. / Le syndrome de Treacher Collins: aspects clinique et génétique à propos de 4 observations dont une familiale.
Tunis Med
; 85(10): 885-90, 2007 Oct.
Artículo
en Francés
| MEDLINE | ID: mdl-18236814
4.
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.
J Child Neurol
; 32(8): 694-703, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28399682
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