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1.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet
; 140(7): 1061-1076, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33811546
2.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
JCI Insight
; 8(9)2023 05 08.
Article
in English
| MEDLINE | ID: mdl-37154160
3.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Eur J Hum Genet
; 31(10): 1117-1124, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37500725
4.
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Nat Med
; 29(6): 1530-1539, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37264205
5.
NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients.
Nat Commun
; 12(1): 1827, 2021 03 23.
Article
in English
| MEDLINE | ID: mdl-33758187
6.
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Nat Med
; 25(7): 1116-1122, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31263281
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