Présentation
Ressources & publications
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2016Journal (source)Am J Hum GenetRecessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2024Journal (source)Cereb Cortex
Identifying interindividual variability of social perception and associated b...
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2019Journal (source)Adv Exp Med Biol
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusu...
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2009Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2019Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)Brain
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite oppo...
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2018Journal (source)Brain
Reply: The expanding neurological phenotype of DNM1L-related disorders.
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2018Journal (source)Hum Mol Genet
Basal exon skipping and nonsense-associated altered splicing allows bypassing...
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2018Journal (source)Hum Mutat
Genotype-phenotype correlations in individuals with pathogenic RERE variants.