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1.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genet Med
; 25(8): 100885, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37165955
2.
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Am J Med Genet A
; 188(6): 1667-1675, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35146895
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