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/vufind/Search/Results?lookfor=%22Wakeling%2C+Emma%22&type=Person&sort=year
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PubPharm (140)
1
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
enthalten in:
Clinical genetics
| 2024
von
Malbos, M.
|
Wakeling, E.
|
Gautier, T.
| +26
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2
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
enthalten in:
bioRxiv.org
| 2024
von
Sanchis-Juan, A.
|
Megy, K.
|
Stephens, J.
| +28
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3
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
enthalten in:
Brain : a journal of neurology
| 2024
von
Sidpra, J.
|
Sudhakar, S.
|
Biswas, A.
| +55
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4
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
enthalten in:
American journal of human genetics
| 2024
von
Shepherdson, J.
|
Hutchison, K.
|
Don, D.
| +54
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5
Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Lokulo-Sodipe, O.
|
Inskip, H.
|
Byrne, C.
| +5
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6
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
enthalten in:
Clinical Genetics
| 2024
von
Malbos, M.
|
Wakeling, E.
|
Gautier, T.
| +26
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7
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
Alabdulrazzaq, F.
|
Alanzi, T.
|
Al-Balool, H.
| +16
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8
Primate-specific ZNF808 is essential for pancreatic development in humans
enthalten in:
Nature genetics
| 2023
von
De Franco, E.
|
Owens, N.
|
Montaser, H.
| +37
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9
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
enthalten in:
Brain : a journal of neurology
| 2023
von
Rinaldi, B.
|
Bayat, A.
|
Zachariassen, L.
| +84
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10
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease
enthalten in:
Molecular genetics and metabolism
| 2023
von
Chen, W.
|
Rehsi, P.
|
Thompson, K.
| +8
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6
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