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1.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Article
in English
| MEDLINE | ID: mdl-38529886
2.
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
J Gene Med
; 25(7): e3501, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36942482
3.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34273913
4.
Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.
J Clin Immunol
; 39(6): 611-615, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31338742
5.
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Eur J Med Genet
; 66(7): 104772, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37100236
6.
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.
Eur J Med Genet
; 65(10): 104591, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35963604
7.
Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment.
J Mov Disord
; 13(3): 238-240, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32713175
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