Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by subject "Sciences du Vivant [q-bio]/Médecine humaine et pathologie"
Now showing items 1-20 of 46
-
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 -
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 -
Lack of vaccination in ventilated patients for SARS-CoV-2 in France.
(Anaesthesia Critical Care & Pain Medicine. vol. 41, n° 2, pp. 101021, 2022-04-01)Article de revueOpen access -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
Severe phenotype in patients with large deletions of NF1
(Cancers. vol. 13, n° 12, 2021-06-13)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 -
Succinate anaplerosis has an onco-driving potential in prostate cancer cells
(Cancers. vol. 13, n° 7, 2021-04-06)Article de revueOpen access -
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
(European Journal of Human Genetics, 2021-06-01)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 -
Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Re-focusing on Agnathia-Otocephaly complex
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
Albinism: An Underdiagnosed Condition.
(Journal of Investigative Dermatology. vol. 140, n° 7, pp. 1449-1451, 2020-07-01)Article de revue -
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
(Clinical Genetics. vol. 97, n° 3, pp. 527-528, 2020-03-01)Article de revue -
Management of albinism: French guidelines for diagnosis and care
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)Article de revue -
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)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 -
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)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 -
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