Résultat de recherche

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Laurent Abel , Jean-Laurent CASANOVA , Emmanuelle Jouanguy

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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Lydie Burglen, Nadia Bahi-Buisson

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Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Nadia Bahi-Buisson, Camille Maillard

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Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Nadia Bahi-Buisson

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Inherited human IFN-γ deficiency underlies mycobacterial disease.

Jacinta Bustamante

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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Sophie Thomas, Chris Gordon

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