| 1 |
Description clinique et analyse de corrélation phénotype/génotype dans une cohorte de patients atteints d’une déficience intellectuelle liée à des mutations du gène PAK3
|
|
|
|
In: 10èmes Assises de Génétique Humaine et Médicale ; https://hal.archives-ouvertes.fr/hal-02436525 ; 10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France (2020)
|
|
BASE
|
|
Show details
|
|
|
| 2 |
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
|
|
|
|
In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
|
|
BASE
|
|
Show details
|
|
|
| 3 |
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
|
|
|
|
In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139 ; Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩ ; https://jmg.bmj.com/content/55/6/359.long (2018)
|
|
BASE
|
|
Show details
|
|
|
| 4 |
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
|
|
|
|
In: http://infoscience.epfl.ch/record/222363 (2016)
|
|
BASE
|
|
Show details
|
|
|
| 5 |
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
|
|
|
|
In: ISSN: 0028-3878 ; EISSN: 1526-632X ; Neurology ; https://www.hal.inserm.fr/inserm-00420406 ; Neurology, American Academy of Neurology, 2009, 73 (12), pp.962-9. ⟨10.1212/WNL.0b013e3181b8799a⟩ (2009)
|
|
BASE
|
|
Show details
|
|
|
|
|
