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I Ceccherini

Showing results (31-40 of 80) with videos related to

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Kidney International|August 1, 1995
Gender-dependent disease severity in autosomal polycystic kidney disease of ratsN Gretz, I Ceccherini, B Kränzlin, et al.
Internal Medicine Journal|June 24, 2009
Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defectsS Borghini, M Di Duca, A Pini Prato, et al.
Journal of Medical Genetics|May 19, 2001
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?V Pingault, N Bondurand, N Lemort, et al.
Revue Des Maladies Respiratoires|November 5, 2013
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]D E Weese-Mayer, E M Berry-Kravis, I Ceccherini, et al.
European Journal of Human Genetics : EJHG|September 12, 2000
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung diseaseP Griseri, M Sancandi, G Patrone, et al.
AJNR. American Journal of Neuroradiology|April 5, 2008
Can MR imaging diagnose adult-onset Alexander disease?L Farina, D Pareyson, L Minati, et al.
The Journal of Clinical Endocrinology and Metabolism|April 1, 1996
Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrenceC Romei, R Elisei, A Pinchera, et al.
Human Molecular Genetics|April 1, 1997
Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ ratM T Bihoreau, I Ceccherini, J Browne, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Heterogeneity and low detection rate of RET mutations in Hirschsprung diseaseL Yin, V Barone, M Seri, et al.
Japanese Journal of Cancer Research : Gann|September 1, 1994
Germ line mutations of the ret proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2A and type 2BS Maruyama, T Iwashita, T Imai, et al.
Pageof 8

Showing results (31-40 of 80) with videos related to

Sort By:
Pageof 8
Kidney International|August 1, 1995
Gender-dependent disease severity in autosomal polycystic kidney disease of ratsN Gretz, I Ceccherini, B Kränzlin, et al.
Internal Medicine Journal|June 24, 2009
Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defectsS Borghini, M Di Duca, A Pini Prato, et al.
Journal of Medical Genetics|May 19, 2001
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?V Pingault, N Bondurand, N Lemort, et al.
Revue Des Maladies Respiratoires|November 5, 2013
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]D E Weese-Mayer, E M Berry-Kravis, I Ceccherini, et al.
European Journal of Human Genetics : EJHG|September 12, 2000
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung diseaseP Griseri, M Sancandi, G Patrone, et al.
AJNR. American Journal of Neuroradiology|April 5, 2008
Can MR imaging diagnose adult-onset Alexander disease?L Farina, D Pareyson, L Minati, et al.
The Journal of Clinical Endocrinology and Metabolism|April 1, 1996
Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrenceC Romei, R Elisei, A Pinchera, et al.
Human Molecular Genetics|April 1, 1997
Location of the first genetic locus, PKDr1, controlling autosomal dominant polycystic kidney disease in Han:SPRD cy/+ ratM T Bihoreau, I Ceccherini, J Browne, et al.
European Journal of Human Genetics : EJHG|January 1, 1994
Heterogeneity and low detection rate of RET mutations in Hirschsprung diseaseL Yin, V Barone, M Seri, et al.
Japanese Journal of Cancer Research : Gann|September 1, 1994
Germ line mutations of the ret proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2A and type 2BS Maruyama, T Iwashita, T Imai, et al.
Pageof 8