Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Issue Date
Now showing items 41-60 of 120
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Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.
(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)Article de revue -
Severe phenotype in patients with large deletions of NF1
(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueOpen access -
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I
(Scientific Reports. vol. 11, n° 1, 2021-06-16)Article de revueOpen access -
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages
(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)
(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)Article de revue -
Pre-operative peripheral intravenous cannula insertion failure at the first attempt in adults: Development of the VENSCORE predictive scale and identification of risk factors
(Journal of Clinical Anesthesia. vol. 75, pp. 110435, 2021-07-22)Article de revueOpen access -
Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2
(Science Immunology. vol. 6, n° 61, 2021-07-30)Article de revue -
Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome
(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)Article de revueOpen access -
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)Article de revueOpen access -
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells
(Nature Communications. vol. 12, n° 1, 2021-08-13)Article de revueOpen access -
Proteomic study of low-birth-weight nephropathy in rats
(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)Article de revueOpen access -
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)Article de revue -
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
(Journal of Clinical Endocrinology and Metabolism. vol. 106, n° 2, pp. E660-E674, 2021-10-01)Article de revueOpen access -
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
(ERJ Open Research. vol. 8, n° 1, 2022-01-01)Article de revueOpen access -
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
(Investigative Ophthalmology & Visual Science. vol. 63, n° 1, pp. 19, 2022-01-03)Article de revueOpen access -
Implications immuno-métaboliques de la phagocytose de bactéries par les macrophages
(Bordeaux, 2022-02-04)Thèses de doctorat -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueOpen access -
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
(BMC Neurology. vol. 22, n° 1, pp. 53, 2022-02-12)Article de revueOpen access -
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueOpen access