Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome ; volume:18 ; number:1 ; day:24 ; month:10 ; year:2023 ; pages:1-14 ; date:12.2023
Orphanet journal of rare diseases ; 18, Heft 1 (24.10.2023), 1-14, 12.2023

Creator: Shin, Woosub
Kutmon, Martina
Mina, Eleni
Amelsvoort, Therese van
Evelo, Chris T.
Ehrhart, Friederike

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-023-02953-6

URN: urn:nbn:de:101:1-2024020907493828214109

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:24 AM CEST

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Shin, Woosub
Kutmon, Martina
Mina, Eleni
Amelsvoort, Therese van
Evelo, Chris T.
Ehrhart, Friederike
SpringerLink (Online service)

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Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

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Other Objects (12)

Complement Activation in 22q11.2 Deletion Syndrome

Genotype-phenotype correlation in 22q11.2 deletion syndrome

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Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Developmental trajectories of executive functions in 22q11.2 deletion syndrome

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome

Abnormal development of early auditory processing in 22q11.2 Deletion Syndrome

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

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Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Developmental trajectories of executive functions in 22q11.2 deletion syndrome

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

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Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome

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Genotype-phenotype correlation in 22q11.2 deletion syndrome

Otologic and audiologic findings in 22q11.2 deletion syndrome

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Developmental trajectories of executive functions in 22q11.2 deletion syndrome

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

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