Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

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Last updated 02 setembro 2024
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Cyclopia: isolated and with agnathia-otocephaly complex. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Cutis marmorata telangiectatica congenita: a literature review. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract -  Europe PMC
Rubinstein–Taybi syndrome - Wikipedia

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