M. Naudó

发表

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

L. Martorell, A. Nascimento, J. Genovés, 2011, Journal of Human Genetics.

Predisposition to epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?

L. Martorell, P. Póo, M. Tondo, 2011, Epilepsy & Behavior.

Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening

S. Rives, M. Camós, M. Torrebadell, 2015, Pediatric blood & cancer.

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

F. Tassone, E. Berry-Kravis, B. Durbin-Johnson, 2014, Journal of Neurodevelopmental Disorders.

Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families

M. Baiget, J. Poza, L. Martorell, 2007, Prenatal diagnosis.

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

D. Karall, L. Martorell, E. Haberlandt, 2007, European journal of medical genetics.

Contribution to the study of mites parasite on Madagascarian Orthopterae.1. The genus Podapolipus (Podapolipidae): Preliminary diagnosis of new species

M. Naudó, 1967 .

Needle phobia: How to improve the child's experience during blood drawing

D. Nadal, N. Serrallonga, B. Ruiz, 2021, Patient Experience Journal.

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia

C. Alegre, J. Gámez, L. Martorell, 2012, Clinical Rheumatology.