Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Didier Lacombe

Foetal Onset of EIF2B Related Disorder in Two Siblings: Cerebellar Hypoplasia With Absent Bergmann Glia and Severe Hypomyelination

Acta neuropathologica communications

Forensic Medicine

Molecular Neuroscience

English

Duplication of PTHLH Causes Osteochondroplasia With a Combined Brachydactyly Type E/A1 Phenotype With Disturbed Bone Maturation and Rhizomelia

European Journal of Human Genetics

English

Deletion in 2q35 Excluding the IHH Gene Leads to Fetal Severe Limb Anomalies and Suggests a Disruption of Chromatin Architecture

European Journal of Human Genetics

English

Prenatal Retinoic Acid Exposure Reveals Candidate Genes for Craniofacial Disorders

Scientific Reports

Multidisciplinary

English

Structural Variation in Xq28: MECP2 Duplications in 1% of Patients With Unexplained XLMR and in 2% of Male Patients With Severe Encephalopathy

European Journal of Human Genetics

English

Whole Mitochondrial Genome Screening in Maternally Inherited Non-Syndromic Hearing Impairment Using a Microarray Resequencing Mitochondrial DNA Chip

European Journal of Human Genetics

English

Glycerol Kinase Deficiency: Residual Activity Explained by Reduced Transcription and Enzyme Conformation

European Journal of Human Genetics

English

Statistical Analysis of Mitochondrial Pathologies in Childhood: Identification of Deficiencies Using Principal Component Analysis

Laboratory Investigation

Forensic Medicine

Molecular Biology

English