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Frontiers in Physiology
|
October 8, 2025
The <i>PHOX2B</i> c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome
Tiziana Bachetti, Simona Bagnasco, Giuseppe Santamaria, et al.
Journal of Clinical Medicine
|
November 27, 2024
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective
Giancarlo Castaman, Silvia Linari, Antonio Barbato, et al.
Frontiers in Neurology
|
December 17, 2020
Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement
Matteo Paoletti, Anna Pichiecchio, Giovanna Stefania Colafati, et al.
Brain & Development
|
February 13, 2016
Electroclinical phenotype in Rubinstein-Taybi syndrome
Antonella Giacobbe, Paola Francesca Ajmone, Donatella Milani, et al.
Journal of Hepatology
|
November 18, 2008
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
Rossella Parini, Francesca Furlan, Luigi Notarangelo, et al.
Child: Care, Health and Development
|
February 14, 2023
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study
Marco Bani, Selena Russo, Erika Raggi, et al.
BMJ Paediatrics Open
|
December 12, 2024
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study
Marco Bani, Selena Russo, Serena Gasperini, et al.
European Journal of Pediatrics
|
April 28, 2026
Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes
Marco Bani, Selena Russo, Serena Gasperini, 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.
Page
of 5
Search research articles
Search
Showing results (21-30 of 44) with videos related to
Sort By:
Page
of 5
Frontiers in Physiology
|
October 8, 2025
The <i>PHOX2B</i> c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome
Tiziana Bachetti, Simona Bagnasco, Giuseppe Santamaria, et al.
Journal of Clinical Medicine
|
November 27, 2024
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective
Giancarlo Castaman, Silvia Linari, Antonio Barbato, et al.
Frontiers in Neurology
|
December 17, 2020
Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement
Matteo Paoletti, Anna Pichiecchio, Giovanna Stefania Colafati, et al.
Brain & Development
|
February 13, 2016
Electroclinical phenotype in Rubinstein-Taybi syndrome
Antonella Giacobbe, Paola Francesca Ajmone, Donatella Milani, et al.
Journal of Hepatology
|
November 18, 2008
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
Rossella Parini, Francesca Furlan, Luigi Notarangelo, et al.
Child: Care, Health and Development
|
February 14, 2023
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study
Marco Bani, Selena Russo, Erika Raggi, et al.
BMJ Paediatrics Open
|
December 12, 2024
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study
Marco Bani, Selena Russo, Serena Gasperini, et al.
European Journal of Pediatrics
|
April 28, 2026
Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes
Marco Bani, Selena Russo, Serena Gasperini, 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.
Page
of 5