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Journal of Medical Genetics|August 2, 2020
Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disordersFrancesco Nicita, Monia Ginevrino, Lorena Travaglini, et al.
International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.
Iscience|February 3, 2025
Pathogenic <i>KIAA0586/TALPID3</i> variants are associated with defects in primary and motile ciliaJacqueline E Taudien, Diana Bracht, Heike Olbrich, et al.
Placenta|July 7, 2022
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosisGiacomo Fiandrino, Alessia Arossa, Stefano Ghirardello, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
<i>RAB32</i> -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Parkinsonism & Related Disorders|March 29, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson diseaseGiada Cuconato, Ilaria Palmieri, Marco Percetti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 30, 2025
Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's DiseaseAgata Fant, Sara Trova, Edoardo Monfrini, et al.
Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer|February 15, 2020
Nursing role in the assessment and care of hepatic sinusoidal obstruction syndrome patients: a consensus paper by the "Gruppo Italiano Trapianto di Midollo Osseo"Stefano Botti, Iris Agreiter, Laura Orlando, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
NPJ Parkinson'S Disease|June 27, 2023
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)Lara M Lange, Micol Avenali, Melina Ellis, et al.
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