Detalhe da pesquisa
1.
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Proc Natl Acad Sci U S A
; 120(7): e2217831120, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745799
2.
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
J Med Genet
; 61(2): 117-124, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37399313
3.
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hum Genet
; 143(5): 695-701, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607411
4.
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
Clin Genet
; 105(1): 44-51, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814412
5.
[RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM].
Harefuah
; 160(12): 822-826, 2021 Dec.
Artigo
em Hebraico
| MEDLINE | ID: mdl-34957720
6.
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Neurogenetics
; 21(4): 301-304, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488727
7.
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
Clin Genet
; 98(3): 303-307, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617964
8.
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Am J Med Genet A
; 182(6): 1506-1512, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232962
9.
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Ann Hum Genet
; 83(5): 361-366, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977917
10.
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Eur J Hum Genet
; 32(5): 550-557, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433265
11.
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.
J Cardiovasc Transl Res
; 16(6): 1325-1331, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973666
12.
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
NPJ Genom Med
; 8(1): 22, 2023 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580330
13.
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
JAMA Dermatol
; 158(11): 1245-1253, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044230
14.
DEGS1 variant causes neurological disorder.
Eur J Hum Genet
; 27(11): 1668-1676, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186544