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Inflammatory Bowel Diseases
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April 27, 2018
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype
Martina Girardelli, Claudia Loganes, Alessia Pin, et al.
Molecular Medicine Reports
|
March 4, 2016
Putative modifier genes in mevalonate kinase deficiency
Annalisa Marcuzzi, Diego Vozzi, Martina Girardelli, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2013
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection
Emmanouil Athanasakis, Danilo Licastro, Flavio Faletra, et al.
Plos One
|
December 7, 2013
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss
Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, et al.
European Journal of Human Genetics : EJHG
|
October 21, 2018
TBL1Y: a new gene involved in syndromic hearing loss
Mariateresa Di Stazio, Chiara Collesi, Diego Vozzi, et al.
Oncotarget
|
January 15, 2015
The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias
Emmanouil Athanasakis, Elisabetta Melloni, Gian Matteo Rigolin, et al.
Scientific Reports
|
December 23, 2015
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss
Giorgia Girotto, Déborah I Scheffer, Anna Morgan, et al.
International Journal of Molecular Sciences
|
July 29, 2025
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults
Alice Grossi, Grigorios Tsaknakis, Francesca Rosamilia, et al.
Mutation Research
|
May 15, 2017
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, et al.
European Journal of Human Genetics : EJHG
|
September 5, 2018
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Anna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 41) with videos related to
Sort By:
Page
of 5
Inflammatory Bowel Diseases
|
April 27, 2018
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype
Martina Girardelli, Claudia Loganes, Alessia Pin, et al.
Molecular Medicine Reports
|
March 4, 2016
Putative modifier genes in mevalonate kinase deficiency
Annalisa Marcuzzi, Diego Vozzi, Martina Girardelli, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2013
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection
Emmanouil Athanasakis, Danilo Licastro, Flavio Faletra, et al.
Plos One
|
December 7, 2013
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss
Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, et al.
European Journal of Human Genetics : EJHG
|
October 21, 2018
TBL1Y: a new gene involved in syndromic hearing loss
Mariateresa Di Stazio, Chiara Collesi, Diego Vozzi, et al.
Oncotarget
|
January 15, 2015
The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias
Emmanouil Athanasakis, Elisabetta Melloni, Gian Matteo Rigolin, et al.
Scientific Reports
|
December 23, 2015
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss
Giorgia Girotto, Déborah I Scheffer, Anna Morgan, et al.
International Journal of Molecular Sciences
|
July 29, 2025
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults
Alice Grossi, Grigorios Tsaknakis, Francesca Rosamilia, et al.
Mutation Research
|
May 15, 2017
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, et al.
European Journal of Human Genetics : EJHG
|
September 5, 2018
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Anna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, et al.
Page
of 5