Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism ; volume:17 ; number:1 ; day:5 ; month:8 ; year:2024 ; pages:1-15 ; date:12.2024
BMC medical genomics ; 17, Heft 1 (5.8.2024), 1-15, 12.2024

Creator: Ghasemi, Mohammad-Reza
Sadeghi, Hossein
Hashemi-Gorji, Farzad
Mirfakhraie, Reza
Gupta, Vijay
Ben-Mahmoud, Afif
Bagheri, Saman
Razjouyan, Katayoon
Salehpour, Shadab
Tonekaboni, Seyed Hassan
Dianatpour, Mehdi
Omrani, Davood
Jang, Mi-Hyeon
Layman, Lawrence C.
Miryounesi, Mohammad
Kim, Hyung-Goo

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-024-01969-6

URN: urn:nbn:de:101:1-2410252113359.215340069877

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

Last update: 15.08.2025, 7:20 AM CEST

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Associated

Ghasemi, Mohammad-Reza
Sadeghi, Hossein
Hashemi-Gorji, Farzad
Mirfakhraie, Reza
Gupta, Vijay
Ben-Mahmoud, Afif
Bagheri, Saman
Razjouyan, Katayoon
Salehpour, Shadab
Tonekaboni, Seyed Hassan
Dianatpour, Mehdi
Omrani, Davood
Jang, Mi-Hyeon
Layman, Lawrence C.
Miryounesi, Mohammad
Kim, Hyung-Goo
SpringerLink (Online service)

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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

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Other Objects (12)

Exome Pool-Seq in neurodevelopmental disorders

Deciphering similarities and differences in the neuroanatomical correlates of syndromic and non-syndromic neurodevelopmental disorders

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Syndromic ichthyoses

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

Redefining syndromic surveillance

Exome Pool-Seq in neurodevelopmental disorders

Deciphering similarities and differences in the neuroanatomical correlates of syndromic and non-syndromic neurodevelopmental disorders

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Syndromic ichthyoses

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

Redefining syndromic surveillance

Exome Pool-Seq in neurodevelopmental disorders

Deciphering similarities and differences in the neuroanatomical correlates of syndromic and non-syndromic neurodevelopmental disorders

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Syndromic ichthyoses

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

Redefining syndromic surveillance

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