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/vufind/Search/Results?lookfor=%22Brunet%2C+Theresa%22&type=Person&sort=year
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PubPharm (78)
1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
enthalten in:
bioRxiv.org
| 2024
von
Vetro, A.
|
Balestrini, S.
|
Pelorosso, C.
| +41
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2
Genetic landscape of pediatric acute liver failure of indeterminate origin
enthalten in:
Hepatology (Baltimore, Md.)
| 2024
von
Lenz, D.
|
Schlieben, L.
|
Shimura, M.
| +92
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3
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders : insights into the gray zone of molecular diagnoses
enthalten in:
Journal of neurology
| 2024
von
Krenn, M.
|
Wagner, M.
|
Zulehner, G.
| +20
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4
Genome Sequencing for Cases Unsolved by Exome Sequencing : Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago
enthalten in:
Neuropediatrics
| 2024
von
Jacob, M.
|
Brugger, M.
|
Andres, S.
| +10
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5
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases
enthalten in:
bioRxiv.org
| 2024
von
Lesmann, H.
|
Hustinx, A.
|
Moosa, S.
| +80
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6
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Lesmann, H.
|
Hustinx, A.
|
Moosa, S.
| +80
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7
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Maroofian, R.
|
Zamani, M.
|
Kaiyrzhanov, R.
| +30
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8
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
enthalten in:
Nature communications
| 2024
von
Nashabat, M.
|
Nabavizadeh, N.
|
Saraçoğlu, H.
| +56
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9
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism
enthalten in:
Neuropediatrics
| 2024
von
Gebert, J.
|
Brunet, T.
|
Wagner, M.
| +4
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10
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Brunet, T.
|
Zott, B.
|
Lieftüchter, V.
| +46
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