Results 141 to 150 of about 16,104 (221)

Rubinstein-Taybi syndrome with agenesis of corpus callosum.

J Pediatr Neurosci, 2015
Mishra S, Agarwalla SK, Potpalle DR, Dash NN.   +3 more
europepmc   +1 more source

Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders. [PDF]

Cells
Achkasova KA, Subbotin PV, Zhukov VV, Filat'eva AE, Tarabykin VS, Kondakova EV.   +5 more
europepmc   +1 more source

Agenesis of corpus callosum

, 2017
openaire   +1 more source

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review. [PDF]

Front Pediatr
Zhang Y, Shi X, Xiao X, Yuan S, Tang J.
europepmc   +1 more source

Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome. [PDF]

Hum Genome Var
Hirai S, Mitsubuchi H, Matsumoto S.
europepmc   +1 more source

Agenesis of the corpus callosum

, 2022
openaire   +2 more sources

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss. [PDF]

Radiol Case Rep
Ouqlani C, Bahlouli N, Riache H, Fikri M, Kettani NE, Jiddane M, Touarsa F.   +6 more
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

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios. [PDF]

BMC Pregnancy Childbirth
Duymuş AC, Bozbay N, Kılıç Ş, Yıldırım O, Örgül G, Pekin AT.   +5 more
europepmc   +1 more source

Shapiro Syndrome: A Case Report. [PDF]

Cureus
Motsara M.
europepmc   +1 more source