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1.
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
J Hum Genet
; 69(5): 187-196, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38355957
2.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 543-550, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37072624
3.
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Hum Mutat
; 43(10): 1361-1367, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35753050
4.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34581780
5.
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Mol Genet Metab
; 133(2): 201-210, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33707149
6.
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Am J Med Genet A
; 182(6): 1483-1490, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32198973
7.
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.
J Hum Genet
; 63(4): 525-528, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29410510
8.
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 577, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37237142
9.
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
Am J Med Genet A
; 176(11): 2479-2486, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30329211
10.
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.
Hum Genet
; 136(7): 885-896, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28526948
11.
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
Neuromuscul Disord
; 31(8): 773-782, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34210538
12.
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
J Genet
; 992020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32089526
13.
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Eur J Hum Genet
; 27(9): 1369-1378, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31053780
14.
A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
J Genet
; 2020 Jan; 99: 1-5
Artículo
| IMSEAR | ID: sea-215557
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