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1.
MAGEL2-related disorders: A study and case series.
Clin Genet
; 96(6): 493-505, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31397880
2.
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
Hum Mol Genet
; 23(23): 6345-55, 2014 Dec 01.
Article
in English
| MEDLINE | ID: mdl-25008111
3.
CLTC as a clinically novel gene associated with multiple malformations and developmental delay.
Am J Med Genet A
; 170A(4): 958-66, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26822784
4.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Article
in English
| MEDLINE | ID: mdl-22970919
5.
Genetic decision-making: parental responsibility.
Linacre Q
; 43(4): 280-91, 1976 Nov.
Article
in English
| MEDLINE | ID: mdl-11661337
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