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1.
Seasonal variation in vitamin D status of Japanese infants starts to emerge at 2 months of age: a retrospective cohort study.
Br J Nutr
; 129(11): 1908-1915, 2023 06 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36017869
2.
CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.
J Med Genet
; 59(12): 1241-1246, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906012
3.
Incidence and clinical risk factors of Bednar's aphthae in Japanese newborns.
Pediatr Int
; 65(1): e15631, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37804067
4.
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system.
J Hum Genet
; 67(10): 607-611, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35606504
5.
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
J Hum Genet
; 66(11): 1121-1126, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34031513
6.
Discordant responses of bone formation and absorption markers in Japanese infants with vitamin D deficiency: a comprehensive matched case-control study.
JBMR Plus
; 8(5): ziae033, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38623484
7.
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
Clin Epigenetics
; 15(1): 78, 2023 05 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37147716
8.
The cut-off values of vitamin D deficiency in early infancy.
Pediatr Neonatol
; 63(4): 361-367, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35410821
9.
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR.
Eur J Med Genet
; 65(6): 104502, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35427809
10.
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
J Clin Endocrinol Metab
; 107(8): e3121-e3133, 2022 07 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35583390
11.
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
Clin Epigenetics
; 13(1): 119, 2021 05 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34039421
12.
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years.
Clin Epigenetics
; 12(1): 111, 2020 07 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-32698867
13.
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
Clin Epigenetics
; 12(1): 159, 2020 10 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33092629
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