Results 151 to 160 of about 11,659 (210)

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity. [PDF]

Cureus
Amanallah MR, Chraa M, Louhab N, Balili K.   +3 more
europepmc   +1 more source

[AGENESIS OF THE CORPUS CALLOSUM].

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

Twins With Pathogenic <i>RNF113A</i> Variant Presenting With Testicular Regression Syndrome. [PDF]

JCEM Case Rep
Resnick O, Beauchamp G.
europepmc   +1 more source

Corpus callosum agenesis

, 2020
openaire   +1 more source

Radiologic Features of Curvilinear and Tubulonodular Pericallosal Lipomas: Two Case Reports. [PDF]

Cureus
Diani A, Akhatar FE, Bouroumane MR, Benzalim M, Alj S.   +4 more
europepmc   +1 more source

Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics. [PDF]

JIMD Rep
Semcesen LN, Ball M, Hock DH, Kaye J, Woods A, De Jong L, MitoMDT Diagnostic Network for Genomics and Omics, Christodoulou J, Thorburn DR, Compton AG, Stroud DA, Liebelt J.   +11 more
europepmc   +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

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