Results 161 to 170 of about 11,607 (215)

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

Goldberg-Shprintzen Megacolon Syndrome Diagnosed in the Neonatal Period: A Case Report With Molecular Confirmation. [PDF]

Cureus
Papaioannou E, Anastasiadou E.
europepmc   +1 more source

Early-onset pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: the first genetically confirmed case from Palestine. [PDF]

Ann Med Surg (Lond)
Pujee BK, Mujahed R, Thabaineh RW, Ghayyada S, Tbaisha D, Atwan MY, Shawabka AM.   +6 more
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 corpus callosum

, 2020
openaire   +1 more source

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

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging. [PDF]

Neuroradiology
AlRayahi J, AlDasuqi K, AlSubhi M, Mubarak W, Al Walid O.   +4 more
europepmc   +1 more source

[AGENESIS OF THE CORPUS CALLOSUM].

Archivos argentinos de pediatria, 1996
M, CUSMINCKY, J, OPITZ
openaire   +1 more source

Corpus callosum agenesis

, 2020
openaire   +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