Biallelic variants in KIF14 cause intellectual disability with microcephaly

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Biallelic variants in KIF14 cause intellectual disability with microcephaly ; volume:26 ; number:3 ; day:17 ; month:1 ; year:2018 ; pages:330-339 ; date:3.2018
European journal of human genetics ; 26, Heft 3 (17.1.2018), 330-339, 3.2018

Creator: Makrythanasis, Periklis

Contributor: Maroofian, Reza
Stray-Pedersen, Asbjørg
Musaev, Damir
Zaki, Maha S.
Mahmoud, Iman G.
Selim, Laila
Elbadawy, Amera
Jhangiani, Shalini N.
Coban Akdemir, Zeynep H.
Gambin, Tomasz
Sorte, Hanne S.
Heiberg, Arvid
McEvoy-Venneri, Jennifer
James, Kiely N.
Stanley, Valentina
Belandres, Denice
Guipponi, Michel
Santoni, Federico A.
Ahangari, Najmeh
Tara, Fatemeh
Doosti, Mohammad
Iwaszkiewicz, Justyna
Zoete, Vincent
Backe, Paul Hoff
Hamamy, Hanan
Gleeson, Joseph G.
Lupski, James R.
Karimiani, Ehsan Ghayoor
Antonarakis, Stylianos E.
SpringerLink (Online service)

DOI: 10.1038/s41431-017-0088-9

URN: urn:nbn:de:1111-20180425126

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:51 AM CEST

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Associated

Makrythanasis, Periklis
Maroofian, Reza
Stray-Pedersen, Asbjørg
Musaev, Damir
Zaki, Maha S.
Mahmoud, Iman G.
Selim, Laila
Elbadawy, Amera
Jhangiani, Shalini N.
Coban Akdemir, Zeynep H.
Gambin, Tomasz
Sorte, Hanne S.
Heiberg, Arvid
McEvoy-Venneri, Jennifer
James, Kiely N.
Stanley, Valentina
Belandres, Denice
Guipponi, Michel
Santoni, Federico A.
Ahangari, Najmeh
Tara, Fatemeh
Doosti, Mohammad
Iwaszkiewicz, Justyna
Zoete, Vincent
Backe, Paul Hoff
Hamamy, Hanan
Gleeson, Joseph G.
Lupski, James R.
Karimiani, Ehsan Ghayoor
Antonarakis, Stylianos E.
SpringerLink (Online service)

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Biallelic variants in KIF14 cause intellectual disability with microcephaly

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Other Objects (12)

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Genomic and molecular investigations of a large Pakistani family manifesting syndromic intellectual disability associated with microcephaly

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

Autosomal dominant intellectual disability

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Genomic and molecular investigations of a large Pakistani family manifesting syndromic intellectual disability associated with microcephaly

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

Autosomal dominant intellectual disability

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Genomic and molecular investigations of a large Pakistani family manifesting syndromic intellectual disability associated with microcephaly

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

Autosomal dominant intellectual disability

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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

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