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Publications

Primary immunodeficiencies suggest redundancy within the human immune ...
Publications

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative...
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hyp...
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Mosaic Heterochrony in Neural Progenitors Sustains Accelerated Brain Growth...
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Disruption of POGZ Is Associated with Intellectual Disability and Autism...
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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy...
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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable...
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CLP1 founder mutation links tRNA splicing and maturation to cerebellar...
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus...
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Cilia in hereditary cerebral anomalies.
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Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes...
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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the...
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Transmettre

05/11/2019

4th year PhD & Imagine Thesis Award
Publications

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated...
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Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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TCTN3 mutations cause Mohr-Majewski syndrome.
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A neuropathological study of novel RTTN gene mutations causing a familial...
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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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Loss of function IFT27 variants associated with an unclassified lethal...
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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes...