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1.
Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.
J Pediatr Genet
; 12(2): 159-162, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37090830
2.
Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.
Life (Basel)
; 12(7)2022 Jul 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35888124
3.
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.
J Pediatr Endocrinol Metab
; 33(10): 1283-1288, 2020 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32841164
4.
Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male.
Forensic Sci Res
; 4(3): 274-279, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31489393
5.
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
PLoS One
; 13(12): e0207296, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30517146
6.
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Pediatr Neurol
; 112: 53-55, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32911264
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