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Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|
March 18, 2014
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation
Pietro Merli, Francesca Novara, Daniela Montagna, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2015
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events
Alice Decio, Davide Tonduti, Anna Pichiecchio, et al.
Journal of Child Neurology
|
October 30, 2015
The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children
Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2008
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members
Anna Lisa Nucaro, Marta Meloni, Tiziana Pisano, et al.
Genes, Chromosomes & Cancer
|
August 10, 2017
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype
Monica Marabelli, Viviana Gismondi, Maria Teresa Ricci, et al.
The Journal of Pathology
|
June 14, 2017
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, et al.
American Journal of Medical Genetics. Part A
|
June 12, 2008
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
Tiziano Pramparo, Manuela de Gregori, Stefania Gimelli, et al.
Human Mutation
|
January 31, 2007
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, et al.
Human Genetics
|
July 13, 2010
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
Nicoletta Resta, Roberto Giorda, Rosanna Bagnulo, et al.
Molecular Cytogenetics
|
March 1, 2012
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, et al.
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of 23
Search research articles
Search
Showing results (101-110 of 222) with videos related to
Sort By:
Page
of 23
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|
March 18, 2014
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation
Pietro Merli, Francesca Novara, Daniela Montagna, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2015
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events
Alice Decio, Davide Tonduti, Anna Pichiecchio, et al.
Journal of Child Neurology
|
October 30, 2015
The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children
Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, et al.
American Journal of Medical Genetics. Part A
|
November 18, 2008
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members
Anna Lisa Nucaro, Marta Meloni, Tiziana Pisano, et al.
Genes, Chromosomes & Cancer
|
August 10, 2017
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype
Monica Marabelli, Viviana Gismondi, Maria Teresa Ricci, et al.
The Journal of Pathology
|
June 14, 2017
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, et al.
American Journal of Medical Genetics. Part A
|
June 12, 2008
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
Tiziano Pramparo, Manuela de Gregori, Stefania Gimelli, et al.
Human Mutation
|
January 31, 2007
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, et al.
Human Genetics
|
July 13, 2010
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
Nicoletta Resta, Roberto Giorda, Rosanna Bagnulo, et al.
Molecular Cytogenetics
|
March 1, 2012
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, et al.
Page
of 23