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P Tonin

Showing results (101-110 of 110) with videos related to

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Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.
Pharmacogenetics|October 23, 2001
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptivesI B Runnebaum, S Wang-Gohrke, D Vesprini, et al.
Human Genetics|December 22, 1998
Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1N Rahman, F Abidi, D Ford, et al.
Journal of Neurology|August 18, 2022
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohortV Montano, P Lopriore, F Gruosso, et al.
American Journal of Human Genetics|April 29, 1998
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumD Ford, D F Easton, M Stratton, et al.
American Journal of Human Genetics|February 1, 1996
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international studyS L Neuhausen, S Mazoyer, L Friedman, et al.
Nature Medicine|November 1, 1996
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer familiesP Tonin, B Weber, K Offit, et al.
Journal of Neurology|April 28, 2026
X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort studyA Elkoush, R Giossi, G Gadaleta, et al.
Journal of Neurology|July 12, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian NetworkD Orsucci, C Angelini, E Bertini, et al.
Pageof 11

Showing results (101-110 of 110) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 110 results.
Neuropathology and Applied Neurobiology|June 3, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)M Ripolone, R Violano, D Ronchi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 19, 2015
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk populationO Musumeci, G la Marca, M Spada, et al.
Pharmacogenetics|October 23, 2001
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptivesI B Runnebaum, S Wang-Gohrke, D Vesprini, et al.
Human Genetics|December 22, 1998
Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1N Rahman, F Abidi, D Ford, et al.
Journal of Neurology|August 18, 2022
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohortV Montano, P Lopriore, F Gruosso, et al.
American Journal of Human Genetics|April 29, 1998
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumD Ford, D F Easton, M Stratton, et al.
American Journal of Human Genetics|February 1, 1996
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international studyS L Neuhausen, S Mazoyer, L Friedman, et al.
Nature Medicine|November 1, 1996
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer familiesP Tonin, B Weber, K Offit, et al.
Journal of Neurology|April 28, 2026
X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort studyA Elkoush, R Giossi, G Gadaleta, et al.
Journal of Neurology|July 12, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian NetworkD Orsucci, C Angelini, E Bertini, et al.
Pageof 11