Search details
1.
The phosphatase SHP2 regulates the spacing effect for long-term memory induction.
Cell
; 139(1): 186-98, 2009 Oct 02.
Article
in English
| MEDLINE | ID: mdl-19804763
2.
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.
J Hum Genet
; 68(9): 643-648, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37268768
3.
Effectiveness and safety of Tolvaptan in infants with congenital heart disease.
Pediatr Int
; 65(1): e15580, 2023.
Article
in English
| MEDLINE | ID: mdl-37428842
4.
Acute Kidney Injury Following Pediatric Liver Transplant.
J Intensive Care Med
; 37(1): 107-113, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-33283598
5.
YouTube videos in Japanese as a source of information on nocturnal enuresis: A content-quality and reliability analysis.
Pediatr Int
; 64(1): e15049, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34747553
6.
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake.
J Hum Genet
; 66(3): 321-325, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32908218
7.
Clinical assessment of upper airway and its complications in Hunter syndrome.
Pediatr Int
; 63(5): 543-549, 2021 May.
Article
in English
| MEDLINE | ID: mdl-32935418
8.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Genet Med
; 22(5): 908-916, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31904027
9.
Knowledge and attitudes on pharmacogenetics among pediatricians.
J Hum Genet
; 65(5): 437-444, 2020 May.
Article
in English
| MEDLINE | ID: mdl-31983733
10.
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Clin Genet
; 98(6): 606-612, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32812661
11.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31530938
12.
Biallelic MTHFD1 variants presenting as severe combined immunodeficiency.
Clin Immunol
; 255: 109768, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37690615
13.
Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.
Pediatr Transplant
; 20(6): 756-69, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27329540
14.
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nat Genet
; 39(8): 1007-12, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17603483
15.
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Nat Genet
; 39(1): 75-9, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17143282
16.
1H, 13C and 15N backbone resonance assignments of hepatocyte nuclear factor-1-beta (HNF1ß) POUS and POUHD.
Biomol NMR Assign
; 18(1): 59-63, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38451454
17.
Skin lesions in a patient with Cobalamin C disease in poor metabolic control.
J Inherit Metab Dis
; 41(2): 279-280, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29098535
18.
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
Hum Mol Genet
; 18(1): 193-201, 2009 Jan 01.
Article
in English
| MEDLINE | ID: mdl-18849586
19.
Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.
Proc Natl Acad Sci U S A
; 105(21): 7472-7, 2008 May 27.
Article
in English
| MEDLINE | ID: mdl-18495928
20.
Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.
Transl Gastroenterol Hepatol
; 6: 4, 2021.
Article
in English
| MEDLINE | ID: mdl-33437892