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1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet;
109(10): 1867-1884, 2022 10 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36130591
2.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet;
59(11): 1058-1068, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35232796
3.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Am J Med Genet A;
188(12): 3540-3545, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36082874
4.
Maternity or parental leave and breastfeeding duration: Results from the ELFE cohort.
Matern Child Nutr;
15(4): e12872, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31284324
5.
Use of infant formula in the ELFE study: The association with social and health-related factors.
Matern Child Nutr;
14(1)2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29265745
6.
Factors associated with the introduction of complementary feeding in the French ELFE cohort study.
Matern Child Nutr;
14(2): e12536, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29052955
7.
Do hedonic- versus nutrition-based attitudes toward food predict food choices? a cross-sectional study of 6- to 11-year-olds.
Int J Behav Nutr Phys Act;
14(1): 162, 2017 11 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-29178916
8.
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
Eur J Med Genet;
69: 104932, 2024 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38453051
9.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet;
32(2): 190-199, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37872275
10.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet;
66(10): 104841, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37714374
11.
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Front Endocrinol (Lausanne);
12: 657913, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34248839
12.
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.
Clin Res Hepatol Gastroenterol;
45(6): 101640, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33662777
13.
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Eur J Med Genet;
64(10): 104290, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34274527
14.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Mol Genet Metab Rep;
29: 100812, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34712575
15.
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Eur J Med Genet;
63(12): 104064, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32998064
16.
Frequency of Use of Added Sugar, Salt, and Fat in Infant Foods up to 10 Months in the Nationwide ELFE Cohort Study: Associated Infant Feeding and Caregiving Practices.
Nutrients;
11(4)2019 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30934918
17.
Growth during puberty in cystic fibrosis: a retrospective evaluation of a French cohort.
Arch Dis Child;
97(8): 714-20, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22692018
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