Search details
1.
ACAN biallelic variants in a girl with severe idiopathic short stature.
J Hum Genet
; 67(8): 481-486, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35314765
2.
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
J Hum Genet
; 66(12): 1185-1187, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34112922
3.
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clin Genet
; 100(1): 40-50, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33644862
4.
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.
Clin Epigenetics
; 16(1): 73, 2024 Jun 05.
Article
in English
| MEDLINE | ID: mdl-38840187
5.
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Brain Dev
; 43(9): 945-951, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34092405
6.
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
Clin Epigenetics
; 13(1): 119, 2021 05 26.
Article
in English
| MEDLINE | ID: mdl-34039421
7.
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.
Sci Rep
; 8(1): 2287, 2018 02 02.
Article
in English
| MEDLINE | ID: mdl-29396419
8.
Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
Pediatr Int
; 50(5): 694-5, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-19261122
9.
A simple quantitative assay for urinary adenosine using column-switching high-performance liquid chromatography.
Tohoku J Exp Med
; 208(1): 57-63, 2006 Jan.
Article
in English
| MEDLINE | ID: mdl-16340174
10.
Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation.
J Hum Genet
; 51(2): 118-123, 2006.
Article
in English
| MEDLINE | ID: mdl-16307177
11.
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
Tohoku J Exp Med
; 205(4): 335-42, 2005 Apr.
Article
in English
| MEDLINE | ID: mdl-15750329
12.
Urinary uracil in female patients with ornithine transcarbamylase deficiency.
Pediatr Int
; 47(3): 262-6, 2005 Jun.
Article
in English
| MEDLINE | ID: mdl-15910448
13.
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.
Mol Genet Metab
; 85(4): 271-9, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-15946879
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