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Variants in CUL4B are Associated with Cerebral Malformations
Anneke T. Vulto-van Silfhout
,
Tadashi Nakagawa
,
Nadia Bahi-Buisson
,
Stefan A. Haas
,
Hao Hu
et al.
Journal articles
hal-01116441v1
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Common genetic variants influence human subcortical brain structures.
Derrek P Hibar
,
Jason L Stein
,
Miguel E Renteria
,
Alejandro Arias-Vasquez
,
Sylvane Desrivières
et al.
Journal articles
hal-01196805v1
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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Suzanna Gerarda Maria Frints
,
Steffen Lenzner
,
Mareike Bauters
,
Lars Riff Jensen
,
Hilde van Esch
et al.
Journal articles
hal-00655304v1
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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Arjan P M de Brouwer
,
Helger G Yntema
,
Tjitske Kleefstra
,
Dorien Lugtenberg
,
Astrid R Oudakker
et al.
Journal articles
hal-00655314v1
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Novel genetic loci underlying human intracranial volume identified through genome-wide association
Hieab H H Adams
,
Derrek P Hibar
,
Vincent Chouraki
,
Jason L Stein
,
Paul A Nyquist
et al.
Journal articles
hal-01382716v1
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Novel genetic loci associated with hippocampal volume
Derrek P. Hibar
,
Hieab H. H. Adams
,
Neda Jahanshad
,
Ganesh Chauhan
,
Jason L. Stein
et al.
Journal articles
hal-01488337v1
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly a.F. Stessman
,
Marjolein h. Willemsen
,
Michael Fenckova
,
Osnat Penn
,
Alexander Hoischen
et al.
Journal articles
hal-01405534v1
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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Lisa Riley
,
Matthew Heeney
,
Joëlle Rudinger-Thirion
,
Magali Frugier
,
Dean Campagna
et al.
Journal articles
hal-02118688v1
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