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Journal of Medical Genetics
|
December 6, 2018
Kabuki syndrome: international consensus diagnostic criteria
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, et al.
Science Advances
|
December 17, 2019
Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domestication
Matteo Zanella, Alessandro Vitriolo, Alejandro Andirko, et al.
International Journal of Molecular Sciences
|
December 29, 2017
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, et al.
Human Mutation
|
January 19, 2012
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair
Giovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, et al.
Human Mutation
|
August 31, 2018
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion
Grazia Nardella, Grazia Visci, Vito Guarnieri, et al.
The International Journal of Biological Markers
|
November 6, 2012
Aberrant genes promoter methylation in neural crest-derived tumors
Annamaria la Torre, Lucia Anna Muscarella, Paola Parrella, et al.
Cancer Letters
|
January 7, 2020
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability
Santina Venuto, Laura Monteonofrio, Flora Cozzolino, et al.
Human Molecular Genetics
|
January 12, 2018
Effect of diazoxide on Friedreich ataxia models
Antonella Santoro, Sara Anjomani Virmouni, Eleonora Paradies, et al.
Cell Death & Disease
|
October 7, 2025
The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis
Utsa Bhaduri, Eleonora Di Venere, Gabriella Maria Squeo, et al.
Cell Communication and Signaling : CCS
|
July 2, 2025
Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis
Giuseppina di Paola, Francesco Albano, Pietro Zoppoli, et al.
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of 13
Search research articles
Search
Showing results (71-80 of 129) with videos related to
Sort By:
Page
of 13
Journal of Medical Genetics
|
December 6, 2018
Kabuki syndrome: international consensus diagnostic criteria
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, et al.
Science Advances
|
December 17, 2019
Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domestication
Matteo Zanella, Alessandro Vitriolo, Alejandro Andirko, et al.
International Journal of Molecular Sciences
|
December 29, 2017
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, et al.
Human Mutation
|
January 19, 2012
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair
Giovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, et al.
Human Mutation
|
August 31, 2018
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion
Grazia Nardella, Grazia Visci, Vito Guarnieri, et al.
The International Journal of Biological Markers
|
November 6, 2012
Aberrant genes promoter methylation in neural crest-derived tumors
Annamaria la Torre, Lucia Anna Muscarella, Paola Parrella, et al.
Cancer Letters
|
January 7, 2020
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability
Santina Venuto, Laura Monteonofrio, Flora Cozzolino, et al.
Human Molecular Genetics
|
January 12, 2018
Effect of diazoxide on Friedreich ataxia models
Antonella Santoro, Sara Anjomani Virmouni, Eleonora Paradies, et al.
Cell Death & Disease
|
October 7, 2025
The dynamic role of TRIM8, a novel ciliary protein, during various stages of mitosis
Utsa Bhaduri, Eleonora Di Venere, Gabriella Maria Squeo, et al.
Cell Communication and Signaling : CCS
|
July 2, 2025
Hormonally upregulated neu tumor-associated kinase (HUNK) modulates gastric cancer progression through the regulation of cell homeostasis
Giuseppina di Paola, Francesco Albano, Pietro Zoppoli, et al.
Page
of 13