A. M. Beaufrére
Centre Hospitalier Universitaire de Clermont-Ferrand(FR)
Publications by Year
Research Areas
Clinical Nutrition and Gastroenterology, Diet and metabolism studies, Nutrition and Health in Aging, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome(2007)281 cited
- → Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases(2013)132 cited
- → Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects(2013)109 cited
- → Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea(2016)91 cited
- → Time‐course changes of muscle protein synthesis associated with obesity‐induced lipotoxicity(2012)88 cited
- → Prenatal diagnosis of thrombosis of the dural sinuses: report of six cases, review of the literature and suggested management(2008)67 cited
- → Fetal umbilical cord ligation under ultrasound guidance(1994)54 cited
- → Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations(2020)34 cited
- → Does Long‐Term Intermittent Treatment With Glutamine Improve the Well‐being of Fed and Fasted Very Old Rats?(2007)21 cited
- → Prenatal ultrasound findings observed in the Wolf‐hirschhorn syndrome: Data from the registry of congenital malformations in auvergne(2013)14 cited