Results 131 to 140 of about 10,101 (182)

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

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

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

Agenesis of the corpus callosum

, 2019
openaire   +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

Agenesis of corpus callosum

, 2011
openaire   +1 more source

Agenesis of the corpus callosum

, 2016
openaire   +1 more source

Corpus callosum agenesis

, 2015
openaire   +1 more source