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I Ceccherini

Showing results (61-70 of 80) with videos related to

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Cell|February 8, 1991
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16A O Wilkie, D R Higgs, K A Rack, et al.
Clinical Genetics|March 22, 2001
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstructionR De Giorgio, M Seri, R Cogliandro, et al.
Oncogene|May 29, 1997
Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogeneI Ceccherini, B Pasini, F Pacini, et al.
Pediatric Surgery International|March 23, 2010
Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung's disease-associated enterocolitis: a pilot studyC De Filippo, A Pini-Prato, G Mattioli, et al.
Journal of Medical Genetics|April 16, 2002
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinomaF Lesueur, M Corbex, J D McKay, et al.
Journal of Medical Genetics|May 4, 2004
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndromeI Matera, T Bachetti, F Puppo, et al.
AJNR. American Journal of Neuroradiology|February 26, 2021
Widening the Neuroimaging Features of Adenosine Deaminase 2 DeficiencyA F Geraldo, R Caorsi, D Tortora, et al.
Pediatric Rheumatology Online Journal|July 10, 2019
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumabS Signa, E Campione, M Rusmini, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Megacystis, megacolon, and malrotation: a new syndromic association?A Pini Prato, V Rossi, M Fiore, et al.
Blood Advances|November 13, 2019
Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetilF Fioredda, E Cappelli, A Mariani, et al.
Pageof 8

Showing results (61-70 of 80) with videos related to

Sort By:
Pageof 8
Cell|February 8, 1991
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16A O Wilkie, D R Higgs, K A Rack, et al.
Clinical Genetics|March 22, 2001
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstructionR De Giorgio, M Seri, R Cogliandro, et al.
Oncogene|May 29, 1997
Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogeneI Ceccherini, B Pasini, F Pacini, et al.
Pediatric Surgery International|March 23, 2010
Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung's disease-associated enterocolitis: a pilot studyC De Filippo, A Pini-Prato, G Mattioli, et al.
Journal of Medical Genetics|April 16, 2002
Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinomaF Lesueur, M Corbex, J D McKay, et al.
Journal of Medical Genetics|May 4, 2004
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndromeI Matera, T Bachetti, F Puppo, et al.
AJNR. American Journal of Neuroradiology|February 26, 2021
Widening the Neuroimaging Features of Adenosine Deaminase 2 DeficiencyA F Geraldo, R Caorsi, D Tortora, et al.
Pediatric Rheumatology Online Journal|July 10, 2019
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumabS Signa, E Campione, M Rusmini, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Megacystis, megacolon, and malrotation: a new syndromic association?A Pini Prato, V Rossi, M Fiore, et al.
Blood Advances|November 13, 2019
Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetilF Fioredda, E Cappelli, A Mariani, et al.
Pageof 8