C. Bernard

发表

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

G. Thomas, G. Béréziat, P. Benlian, 1995, Human Genetics.

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B‐100

G. Béréziat, E. Villain, P. Benlian, 1996, Human mutation.

Biallelic DICER1 mutations occur in Wilms tumours

W. Foulkes, M. Eccles, A. Reeve, 2013, The Journal of pathology.

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol

J. Genest, M. Marcil, C. Bernard, 2003, Human Genetics.

Does electrophoresis reliably screen for high serum lipoprotein Lp(a)?

P. Giral, E. Bruckert, F. Dairou, 1990, Clinica chimica acta; international journal of clinical chemistry.

Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.

K. Yamamura, E. Bareke, J. Majewski, 2019, Kidney international.

Overexpression of p53 mRNA in colorectal cancer and its relationship to p53 gene mutation.

M. Guiguet, J. Vaillant, G. Béréziat, 1997, British Journal of Cancer.

Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency

N. Chassaing, S. Albrecht, C. Jardel, 2022, Molecular Syndromology.

ARHGDIA: a novel gene implicated in nephrotic syndrome

Kevin C. H. Ha, S. Narod, J. Majewski, 2013, Journal of Medical Genetics.

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

C. Antignac, M. Gubler, N. Braverman, 2019, European journal of medical genetics.