Search details
1.
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.
Int J Mol Sci
; 21(20)2020 Oct 15.
Article
in English
| MEDLINE | ID: mdl-33076433
2.
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Hum Mutat
; 40(6): 721-728, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30825388
3.
POGZ-related epilepsy: Case report and review of the literature.
Am J Med Genet A
; 179(8): 1631-1636, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31136090
4.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30244530
5.
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
Br J Haematol
; 147(3): 379-85, 2009 Nov.
Article
in English
| MEDLINE | ID: mdl-19709084
Results
1 -
5
de 5
1
Next >
>>