P. Makrythanasis

Discipline

Anthropologie biologique (4) Psychologie (1) Philosophie (1) Géographie (1) Economies et finances (1)

Type de document

Articles (15)

Co-auteur

Date

Source

Mot-clé

Human beings (9) gène (6) ADN (6) Phenotype (6) DNA (6) protéine (5) analyse (4) Genes (4) Mice (4) Example (4) Analysis (4) mutation (3) perte (3) enfant (3) Development (3) Variation (3) Identification (3) Transcription (3) Identification (3) Gene expression (3) Fibroblasts (3) Families (3) Expression (3) Down syndrome (3) Identification (3) Transcription (3) Mutation (3) Family (3) roman (3) logiciel (2)

Documents écrit par P. Makrythanasis (15) | parle de P. Makrythanasis (0)

FOXI3 pathogenic variants cause one form of craniofacial microsomia.
K. Mao et al. (11 avr. 2023)
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
G. Stamoulis et al. (3 oct. 2019)
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
A.U. Rehman et al.
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
P. Makrythanasis et al.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
F. A. Santoni et al. (2016)
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
P. Makrythanasis et al. (2016)
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
H. Fairfield et al.
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
M. R. Sailani et al. (2015)
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
P. Callier et al.
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
F. A. Santoni et al.
Next generation diagnostics on cardiomyopathy
J. L. Blouin et al. (2014)
Extrachromosomal driver mutations in glioblastoma and low-grade glioma
S. Nikolaev et al. (2014)
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
M.R. Sailani et al. (2013)
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
P. Makrythanasis et al. (2009)
Efficient targeted transcript discovery via array-based normalization of RACE libraries.
S. Djebali et al.