Detalhe da pesquisa
1.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34038740
2.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet
; 142(7): 949-964, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37198333
3.
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Clin Genet
; 98(1): 56-63, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32323311
4.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1356, 2021 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34214448
5.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Eur J Hum Genet
; 29(1): 141-153, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32860008
6.
Cyclic mononucleotides modulate potassium and calcium flux responses to H2O2 in Arabidopsis roots.
FEBS Lett
; 588(6): 1008-15, 2014 Mar 18.
Artigo
Inglês
| MEDLINE | ID: mdl-24530500
7.
Noninvasive microelectrode ion flux estimation technique (MIFE) for the study of the regulation of root membrane transport by cyclic nucleotides.
Methods Mol Biol
; 1016: 95-106, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23681574