Jamal Ghoumid
0000-0002-7111-0050
6 papers found
Refreshing results…
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
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