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1.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906214
2.
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
Eur J Pediatr
; 173(7): 967-9, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24863632
3.
Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Mitochondrion
; 23: 64-70, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26022780
4.
A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.
Am J Med Genet B Neuropsychiatr Genet
; 137B(1): 20-4, 2005 Aug 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-15965966
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