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1.
Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.
Am J Med Genet A
; 191(8): 2188-2192, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37159433
2.
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Am J Med Genet A
; 191(2): 338-347, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36331261
3.
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.
Clin Genet
; 96(5): 449-455, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31392718
4.
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
Am J Med Genet C Semin Med Genet
; 178(4): 458-463, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30580481
5.
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Eur J Hum Genet
; 28(1): 76-87, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31395947
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