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1.
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Am J Med Genet A
; 191(2): 510-517, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36401557
2.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet J Rare Dis
; 15(1): 89, 2020 04 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32276663
3.
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Orphanet J Rare Dis
; 15(1): 12, 2020 01 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-31937333
4.
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
Eur J Med Genet
; 54(3): 272-6, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21376145
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