V. Cormier-Daire

Discipline

Psychologie (1) Anthropologie biologique (1)

Type de document

Articles (7) Recensions (2)

Co-auteur

Date

Source

Mot-clé

gène (7) Patients (6) Patients (6) mutation (4) analyse (4) ADN (4) Genes (4) DNA (4) Analysis (4) Mutation (4) maladie (4) roman (4) maladie (3) Cases (3) Families (3) Diseases (3) Cases (3) biologie (2) protéine (2) association (2) enfant (2) Diagnosis (2) Deletion (2) Diseases (2) Identification (2) Dysplasia (2) Syndromes (2) Social groups (2) Nosology (2) Human beings (2)

Documents écrit par V. Cormier-Daire (7) | parle de V. Cormier-Daire (0)

Nosology of genetic skeletal disorders: 2023 revision.
S. Unger et al.
Further delineation of the KAT6B molecular and phenotypic spectrum.
T. Gannon et al. (2015)
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
E. Enervald et al. (18 nov. 2013)
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
G.C. Jackson et al. (2012)
Nosology and classification of genetic skeletal disorders: 2010 revision.
M.L. Warman et al. (2011)
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
M.E. Bowen et al. (2011)
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
S. Allali et al. (2011)