Results 151 to 160 of about 988,363 (212)

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families. [PDF]

open access: yesHGG Adv
Beheshti ST   +18 more
europepmc   +1 more source

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis. [PDF]

open access: yesHGG Adv
Narkis G   +9 more
europepmc   +1 more source

<i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities. [PDF]

open access: yesJ Med Genet
Le C   +35 more
europepmc   +1 more source

Deep phenotyping using foetal MRI. [PDF]

open access: yesMed Genet
Kasprian G, Mitter C, Moser P.
europepmc   +1 more source

Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies. [PDF]

open access: yesMol Cytogenet
Ueno K   +8 more
europepmc   +1 more source

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