Results 141 to 150 of about 167,788,531 (210)

<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]

J Med Genet
Le C, Kalayci T, Uyguner Z, Karaman B, Demirören T, Beck B, Winnerling N, George E, DiTroia S, Héron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Raza Alvi J, Sultan T, Houlden H, Efthymiou S, Guillen Sacoto MJ, Goodman M, Pierron L, de Sainte Agathe JM, Durr A, Mendez HR, Wheeler MT, Carter JN, Bernstein JA, Gagachovska B, Trajkova S, Brusco A, Sherr E, Argilli E, Undiagnosed Diseases Network.   +35 more
europepmc   +1 more source

Prenatal MRI features of fetal complete agenesis of the corpus callosum associated with unilateral hemispheric cortical malformation: a retrospective study. [PDF]

Front Radiol
Lin H, Wang X, Wang C, Li G, Li X.
europepmc   +1 more source

Deep phenotyping using foetal MRI. [PDF]

Med Genet
Kasprian G, Mitter C, Moser P.
europepmc   +1 more source

Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum. [PDF]

Mol Syndromol, 2015
Shetty M, Srikanth A, Kadandale J, Hegde S.   +3 more
europepmc   +1 more source

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

Mol Cytogenet
Ueno K, Higasa K, Hayashi M, Isozaki H, Miyata M, Naito N, Li Y, Takeda J, Nonaka M.   +8 more
europepmc   +1 more source

Agenesis of the corpus callosum

, 2015
openaire   +2 more sources

Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual Disability. [PDF]

Mol Genet Genomic Med
Singer JS, Garczarczyk-Asim D, Michel M, Müller T, Hackl L, Janecke AR.   +5 more
europepmc   +1 more source

Prenatal Ultrasound Screening for Corpus Callosum Anomalies: A Narrative Review. [PDF]

Diagnostics (Basel)
Leung KY.
europepmc   +1 more source

Agenesis of corpus callosum

, 2011
openaire   +1 more source

Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association. [PDF]

Cureus
Luce JR, Tran J, Shah C.
europepmc   +1 more source