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Italian Journal of Dermatology and Venereology
|
October 9, 2020
Family burden of children suffering from epidermolysis bullosa
Santa DE Stefano, Francesca S Grassi, Faustina Lalatta, et al.
Molecular Genetics & Genomic Medicine
|
October 4, 2019
Unexpected phenotype in a frameshift mutation of PTCH1
Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, et al.
Italian Journal of Pediatrics
|
September 18, 2024
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, et al.
Frontiers in Cell and Developmental Biology
|
August 28, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
Sebastiano Aleo, Claudia Cinnante, Sabrina Avignone, et al.
European Journal of Internal Medicine
|
April 11, 2016
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study
Jacopo Azzollini, Giulietta Scuvera, Eleonora Bruno, et al.
American Journal of Medical Genetics. Part A
|
April 18, 2018
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
Leda Paganini, Chiara Pesenti, Donatella Milani, et al.
Journal of Human Genetics
|
July 28, 2017
The absence that makes the difference: choroidal abnormalities in Legius syndrome
Arianna Tucci, Veronica Saletti, Francesca Menni, et al.
Journal of Human Genetics
|
February 27, 2018
Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome
Arianna Tucci, Veronica Saletti, Francesca Menni, et al.
Genes
|
June 25, 2020
Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients
Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, et al.
Italian Journal of Pediatrics
|
March 26, 2025
Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels
Giulia Rodari, Valeria Citterio, Masami Ikehata, et al.
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Search research articles
Search
Showing results (11-20 of 35) with videos related to
Sort By:
Page
of 4
Italian Journal of Dermatology and Venereology
|
October 9, 2020
Family burden of children suffering from epidermolysis bullosa
Santa DE Stefano, Francesca S Grassi, Faustina Lalatta, et al.
Molecular Genetics & Genomic Medicine
|
October 4, 2019
Unexpected phenotype in a frameshift mutation of PTCH1
Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, et al.
Italian Journal of Pediatrics
|
September 18, 2024
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, et al.
Frontiers in Cell and Developmental Biology
|
August 28, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
Sebastiano Aleo, Claudia Cinnante, Sabrina Avignone, et al.
European Journal of Internal Medicine
|
April 11, 2016
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study
Jacopo Azzollini, Giulietta Scuvera, Eleonora Bruno, et al.
American Journal of Medical Genetics. Part A
|
April 18, 2018
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
Leda Paganini, Chiara Pesenti, Donatella Milani, et al.
Journal of Human Genetics
|
July 28, 2017
The absence that makes the difference: choroidal abnormalities in Legius syndrome
Arianna Tucci, Veronica Saletti, Francesca Menni, et al.
Journal of Human Genetics
|
February 27, 2018
Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome
Arianna Tucci, Veronica Saletti, Francesca Menni, et al.
Genes
|
June 25, 2020
Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients
Donatella Bianchessi, Maria Cristina Ibba, Veronica Saletti, et al.
Italian Journal of Pediatrics
|
March 26, 2025
Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels
Giulia Rodari, Valeria Citterio, Masami Ikehata, et al.
Page
of 4