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/vufind/Search/Results?lookfor=%22Piard%2C+Juliette%22&type=Person&sort=year
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PubPharm (75)
1
MARK2
variants cause autism spectrum disorder
via
the downregulation of WNT/β-catenin signaling pathway
enthalten in:
bioRxiv.org
| 2024
von
Gong, M.
|
Li, J.
|
Liu, Y.
| +63
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2
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
enthalten in:
Clinical genetics
| 2024
von
Engel, C.
|
Chevarin, M.
|
Piard, J.
| +10
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3
Systematic analysis and prediction of genes associated with disorders on chromosome X
enthalten in:
bioRxiv.org
| 2024
von
Leitão, E.
|
Schröder, C.
|
Parenti, I.
| +34
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4
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome
enthalten in:
The British journal of dermatology
| 2024
von
Kuentz, P.
|
Engel, C.
|
Laeng, M.
| +18
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5
Correction : Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Paulet, A.
|
Bennett-Ness, C.
|
Ageorges, F.
| +46
ErratumFor: Eur J Hum Genet. 2024 Feb 15;:. - PMID 38355961
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6
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication
enthalten in:
Clinical genetics
| 2024
von
Billes, A.
|
Pujalte, M.
|
Jedraszak, G.
| +27
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7
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
enthalten in:
European journal of medical genetics
| 2024
von
de Masfrand, S.
|
Cogné, B.
|
Nizon, M.
| +19
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8
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Paulet, A.
|
Bennett-Ness, C.
|
Ageorges, F.
| +46
ErratumIn: Eur J Hum Genet. 2024 Apr 3;:. - PMID 38565641
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9
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature : A series of 20 unreported individuals
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Sabbagh, Q.
|
Haghshenas, S.
|
Piard, J.
| +63
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10
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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7
American journal of medical genetics. Part A
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Thema
52
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23
Research Support, Non-U.S. Gov't
14
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8
Research Support, N.I.H., Extramural
6
Transcription Factors
3
EC 2.7.11.1
3
Membrane Proteins
3
Nerve Tissue Proteins
3
intellectual disability
3
neurodevelopmental disorder
2
570
2
AMPA receptor
2
Biology
2
Carrier Proteins
2
Codon, Nonsense
2
EC 2.7.10.1
2
EC 3.6.1.-
2
GRIA3
2
Homeodomain Proteins
2
Intellectual disability
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Erscheinungszeitraum
43
2020-
32
2010-2019
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Englisch
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