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Parkinsonism & Related Disorders|July 7, 2020
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystoniaMichael Zech, Theresa Brunet, Matej Škorvánek, et al.
American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
American Journal of Human Genetics|June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansLong Guo, Smrithi Salian, Jing-Yi Xue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
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