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1.
Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
Am J Med Genet A
; 194(4): e63481, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-37984424
2.
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndrome.
Am J Med Genet A
; 185(1): 208-212, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33037780
3.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34436830
4.
Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.
Am J Med Genet A
; 182(3): 548-552, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31833199
5.
Identification of inhibitors of inositol 5-phosphatases through multiple screening strategies.
ACS Chem Biol
; 9(6): 1359-68, 2014 Jun 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-24742366
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