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/vufind/Search/Results?lookfor=%22Smits%2C+Guillaume%22&type=Person&sort=year
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PubPharm (94)
1
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses : A prospective cohort study
enthalten in:
Journal of the American Academy of Dermatology
| 2024
von
Salik, D.
|
Marangoni, M.
|
Dangoisse, C.
| +2
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2
Prioritization of oligogenic variant combinations in whole exomes
enthalten in:
Bioinformatics (Oxford, England)
| 2024
von
Gravel, B.
|
Renaux, A.
|
Papadimitriou, S.
| +3
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3
A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E : a case report
enthalten in:
Frontiers in pediatrics
| 2024
von
Guillaume, A.
|
Stejskal, V.
|
Smits, G.
| +1
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4
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
enthalten in:
Human genetics
| 2023
von
Giuili, E.
|
Grolaux, R.
|
Macedo, C.
| +8
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5
Distinct antibody repertoires against endemic human coronaviruses in children and adults
enthalten in:
bioRxiv.org
| 2023
von
Khan, T.
|
Rahman, M.
|
Ali, F.
| +22
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6
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
enthalten in:
European journal of medical genetics
| 2023
von
van Renterghem, V.
|
Vilain, C.
|
Devriendt, K.
| +4
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7
Salt-losing tubulopathy worsening the prognosis of renal sarcoidosis
enthalten in:
Journal of nephrology
| 2023
von
Abu Ayyach, A.
|
Le Moine, A.
|
Kaci, L.
| +5
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8
Clinical and molecular diagnosis of genodermatoses : Review and perspectives
enthalten in:
Journal of the European Academy of Dermatology and Venereology : JEADV
| 2023
von
Salik, D.
|
Richert, B.
|
Smits, G.
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9
Salt-losing tubulopathy worsening the prognosis of renal sarcoidosis
enthalten in:
Journal of nephrology
| 2023
von
Abu Ayyach, A.
|
Le Moine, A.
|
Kaci, L.
| +5
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10
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
enthalten in:
HGG advances
| 2023
von
Papadimitriou, S.
|
Gravel, B.
|
Nachtegael, C.
| +5
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Nucleic acids research
4
Clinical epigenetics
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Genetics in medicine : official journal of the ...
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3
BMC genetics
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European journal of medical genetics
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American journal of medical genetics. Part A
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33
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13
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8
Receptors, FSH
7
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5
Cyclic AMP
5
E0399OZS9N
4
Beckwith–Wiedemann syndrome
4
Congenital disease
4
DNA methylation
4
Differentially methylated regions
4
Epivariation
4
Imprinting
4
Intellectual disability
4
Multilocus imprinting disturbance
4
Optimization
4
Rare diseases
4
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4
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Erscheinungszeitraum
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2020-
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2010-2019
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2000-2009
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