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Stem Cell Research
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June 9, 2024
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)
Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, et al.
Pediatric Neurology
|
March 19, 2025
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Neurobiology of Disease
|
December 10, 2025
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction
Angela Lanciotti, Maria Stefania Brignone, Chiara De Nuccio, et al.
European Journal of Human Genetics : EJHG
|
May 17, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
Francesco Nicita, Fabrizia Stregapede, Federica Deodato, et al.
The Journal of Allergy and Clinical Immunology
|
February 20, 2026
SIGLEC-1 EXPRESSION ON MONOCYTES AS A DIAGNOSTIC BIOMARKER IN PEDIATRIC TYPE I INTERFERON-MEDIATED DISEASES
Valentina Matteo, Hana Zeric, Elena Loricchio, et al.
Genes
|
April 27, 2024
Spectrum of <i>ERCC6</i>-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
April 3, 2017
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas
Rosario Caltabiano, Gaetano Magro, Agata Polizzi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
October 11, 2024
Early mortality in STXBP1-related disorders
Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
September 13, 2013
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
Vincenzo Salpietro, Kshitij Mankad, Maria Kinali, et al.
Page
of 12
Search research articles
Search
Showing results (81-90 of 120) with videos related to
Sort By:
Page
of 12
Stem Cell Research
|
June 9, 2024
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)
Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, et al.
American Journal of Medical Genetics. Part A
|
November 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, et al.
Pediatric Neurology
|
March 19, 2025
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Neurobiology of Disease
|
December 10, 2025
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction
Angela Lanciotti, Maria Stefania Brignone, Chiara De Nuccio, et al.
European Journal of Human Genetics : EJHG
|
May 17, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
Francesco Nicita, Fabrizia Stregapede, Federica Deodato, et al.
The Journal of Allergy and Clinical Immunology
|
February 20, 2026
SIGLEC-1 EXPRESSION ON MONOCYTES AS A DIAGNOSTIC BIOMARKER IN PEDIATRIC TYPE I INTERFERON-MEDIATED DISEASES
Valentina Matteo, Hana Zeric, Elena Loricchio, et al.
Genes
|
April 27, 2024
Spectrum of <i>ERCC6</i>-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
April 3, 2017
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas
Rosario Caltabiano, Gaetano Magro, Agata Polizzi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
October 11, 2024
Early mortality in STXBP1-related disorders
Francesca Furia, Charlene Son Rigby, Ingrid E Scheffer, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
September 13, 2013
Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study
Vincenzo Salpietro, Kshitij Mankad, Maria Kinali, et al.
Page
of 12