Detalhe da pesquisa
1.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
2.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genet Med
; 24(12): 2453-2463, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305856
3.
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Ann Neurol
; 84(6): 843-853, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412317
4.
The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.
Neuropediatrics
; 50(2): 126-129, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30695801
5.
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Hum Mutat
; 39(8): 1070-1075, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768694
6.
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
J Hum Genet
; 63(12): 1223-1229, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30258207
7.
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
Am J Med Genet A
; 173(8): 2201-2209, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28599099
8.
A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced.
No To Hattatsu
; 49(1): 37-41, 2017 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-30011153
9.
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
J Med Genet
; 52(10): 691-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251176
10.
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
Am J Hum Genet
; 90(1): 86-90, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209246
11.
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Ann Neurol
; 73(1): 48-57, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23225343
12.
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Am J Med Genet A
; 164A(8): 1899-908, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715670
13.
Nusinersen helps restore walking ability in childhood spinal muscular atrophy.
Pediatr Int
; 61(7): 728-729, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290219
14.
[Cervical myelopathy associated with os odontoideum after botulinum toxin treatment in a patient with cerebral palsy].
No To Hattatsu
; 46(4): 307-10, 2014 Jul.
Artigo
em Japonês
| MEDLINE | ID: mdl-25154230
15.
[Clinical profile of persistent generalized muscle contraction following the insult of developing brain].
No To Hattatsu
; 46(1): 10-5, 2014 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-24620424
16.
Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.
Am J Med Genet A
; 155A(1): 215-20, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204235
17.
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Eur J Med Genet
; 64(8): 104251, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051360
18.
Dietary chloride deficiency due to new liquid nutritional products.
Pediatr Int
; 51(2): 197-200, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19405915
19.
Neonatal MRI in preterm infants with periventricular leukomalacia and mild disability.
Pediatr Int
; 51(6): 780-5, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19419519
20.
[Cerebral palsy].
No To Hattatsu
; 41(5): 327-33, 2009 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-19764450