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Publications by Hubert Journel
Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability
European Journal of Human Genetics
Genetics
Homozygous Deletion of an 80kb Region Comprising Part of DNAJC6 and LEPR Genes on Chromosome 1P31.3 Is Associated With Early Onset Obesity, Mental Retardation and Epilepsy
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
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
Genetics
Whole Mitochondrial Genome Screening in Maternally Inherited Non-Syndromic Hearing Impairment Using a Microarray Resequencing Mitochondrial DNA Chip
European Journal of Human Genetics
Genetics