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Genome Research
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August 14, 2003
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25
Mario Ventura, Jonathan M Mudge, Valeria Palumbo, et al.
Human Molecular Genetics
|
April 2, 2003
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, et al.
European Journal of Medical Genetics
|
August 5, 2008
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
Elena Rossi, Anna Pia Verri, Maria Grazia Patricelli, et al.
European Journal of Human Genetics : EJHG
|
June 4, 2025
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
Eliana Salvo, Romano Tenconi, Roberto Giorda, et al.
Case Reports in Genetics
|
August 29, 2013
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm
Mariangela Cisternino, Erika Della Mina, Laura Losa, et al.
Plos One
|
July 11, 2014
Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs
Elena Rossi, Orietta Radi, Lisa De Lorenzi, et al.
Epilepsia
|
September 29, 2009
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
Davide Mei, Carla Marini, Francesca Novara, et al.
American Journal of Cancer Research
|
January 3, 2017
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis
Laura Giunti, Anna Maria Buccoliero, Marilena Pantaleo, et al.
Journal of Pediatric Genetics
|
July 28, 2020
Disseminated <i>Mycobacterium Avium</i> Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of <i>IFNGR1</i> for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant
Grazia Bossi, Edoardo Errichiello, Orsetta Zuffardi, et al.
European Journal of Human Genetics : EJHG
|
February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis
Cristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Page
of 23
Search research articles
Search
Showing results (111-120 of 222) with videos related to
Sort By:
Page
of 23
Genome Research
|
August 14, 2003
Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25
Mario Ventura, Jonathan M Mudge, Valeria Palumbo, et al.
Human Molecular Genetics
|
April 2, 2003
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, et al.
European Journal of Medical Genetics
|
August 5, 2008
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
Elena Rossi, Anna Pia Verri, Maria Grazia Patricelli, et al.
European Journal of Human Genetics : EJHG
|
June 4, 2025
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
Eliana Salvo, Romano Tenconi, Roberto Giorda, et al.
Case Reports in Genetics
|
August 29, 2013
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm
Mariangela Cisternino, Erika Della Mina, Laura Losa, et al.
Plos One
|
July 11, 2014
Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs
Elena Rossi, Orietta Radi, Lisa De Lorenzi, et al.
Epilepsia
|
September 29, 2009
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
Davide Mei, Carla Marini, Francesca Novara, et al.
American Journal of Cancer Research
|
January 3, 2017
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis
Laura Giunti, Anna Maria Buccoliero, Marilena Pantaleo, et al.
Journal of Pediatric Genetics
|
July 28, 2020
Disseminated <i>Mycobacterium Avium</i> Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of <i>IFNGR1</i> for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant
Grazia Bossi, Edoardo Errichiello, Orsetta Zuffardi, et al.
European Journal of Human Genetics : EJHG
|
February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis
Cristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Page
of 23