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Adriano Angioni

Showing results (11-20 of 42) with videos related to

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Journal of Autism and Developmental Disorders|October 14, 2017
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum DisordersEleonora Napoli, Serena Russo, Laura Casula, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of FallotMaria Cristina Digilio, Alessandro De Luca, Francesca Lepri, et al.
Pediatric Blood & Cancer|July 15, 2015
Sporadic Retinoblastoma and Pilocytic Astrocytoma: A Rare Association of Two TumorsMaria Antonietta De Ioris, Andrea Carai, Paola Valente, et al.
BMC Medical Genetics|September 4, 2015
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codonElisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, et al.
Virchows Archiv : an International Journal of Pathology|February 3, 2009
RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndromeMaria Cristina Roberti, Roberta La Starza, Cecilia Surace, et al.
Pediatric Research|December 19, 2008
Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes diseasePietro Sirleto, Cecilia Surace, Helena Santos, et al.
The Journal of Molecular Diagnostics : JMD|February 1, 2015
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitisAnna C Tomaiuolo, Valentina M Sofia, Cecilia Surace, et al.
The Journal of Molecular Diagnostics : JMD|March 9, 2013
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disordersSonia Giordano, Felice Amato, Ausilia Elce, et al.
The Journal of Clinical Endocrinology and Metabolism|April 6, 2006
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome)Carmelo Nucera, Mario Vaccaro, Mariacarla Moleti, et al.
Cancer Genetics|January 14, 2014
Two novel cases of trilateral retinoblastoma: genetics and review of the literatureGemma D'Elia, Simona Grotta, Francesca Del Bufalo, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Journal of Autism and Developmental Disorders|October 14, 2017
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum DisordersEleonora Napoli, Serena Russo, Laura Casula, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of FallotMaria Cristina Digilio, Alessandro De Luca, Francesca Lepri, et al.
Pediatric Blood & Cancer|July 15, 2015
Sporadic Retinoblastoma and Pilocytic Astrocytoma: A Rare Association of Two TumorsMaria Antonietta De Ioris, Andrea Carai, Paola Valente, et al.
BMC Medical Genetics|September 4, 2015
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codonElisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, et al.
Virchows Archiv : an International Journal of Pathology|February 3, 2009
RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndromeMaria Cristina Roberti, Roberta La Starza, Cecilia Surace, et al.
Pediatric Research|December 19, 2008
Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes diseasePietro Sirleto, Cecilia Surace, Helena Santos, et al.
The Journal of Molecular Diagnostics : JMD|February 1, 2015
Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitisAnna C Tomaiuolo, Valentina M Sofia, Cecilia Surace, et al.
The Journal of Molecular Diagnostics : JMD|March 9, 2013
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disordersSonia Giordano, Felice Amato, Ausilia Elce, et al.
The Journal of Clinical Endocrinology and Metabolism|April 6, 2006
antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome)Carmelo Nucera, Mario Vaccaro, Mariacarla Moleti, et al.
Cancer Genetics|January 14, 2014
Two novel cases of trilateral retinoblastoma: genetics and review of the literatureGemma D'Elia, Simona Grotta, Francesca Del Bufalo, et al.
Pageof 5