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1.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
; 22(3): 610-621, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31761904
2.
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.
Genet Med
; 24(3): 754-756, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906509
3.
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Hum Mutat
; 34(6): 801-11, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23505205
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