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1.
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Am J Med Genet A
; 185(2): 355-361, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33141514
2.
An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
Am J Med Genet A
; 185(10): 2888-2894, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34037314
3.
Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family.
J Biomol Struct Dyn
; : 1-12, 2023 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37345548
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