Detalhe da pesquisa
1.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
2.
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Hum Mutat
; 42(4): 460-472, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600046
3.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol
; 28(4): 1344-1355, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220101
4.
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Brain
; 140(10): e65, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969388
5.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
HGG Adv
; 2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791682
6.
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromuscul Disord
; 30(7): 583-589, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522499
7.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Nat Commun
; 9(1): 3087, 2018 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082715
8.
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Public Health Genomics
; 20(3): 188-193, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28719906