Results 161 to 170 of about 22,857 (208)

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome [PDF]

, 2020
openaire   +1 more source

Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic <i>CDK5RAP2</i> and <i>CIT</i> variants. [PDF]

Mol Genet Metab Rep
Albokhari D, Almarwani R, Khadawardi E, Saleemi M, Abdulaziz N, Matar K, Zubier M.   +6 more
europepmc   +1 more source

Porencephaly-microcephaly-bilateral congenital cataract syndrome [PDF]

, 2020
openaire   +1 more source

Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report. [PDF]

Cureus
Dusek J, Nedvedova L, Rysava E, Bartl J, Pokorna P, Slaba K.   +5 more
europepmc   +1 more source

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]

Front Neurol
Granger K, Do C, Quindipan C, Schmidt R, Borchert MS, Nagiel A, Chang MY.   +6 more
europepmc   +1 more source

Congenital nephrotic syndrome with fulminant clinical course: A lesson for primary care physician. [PDF]

J Family Med Prim Care
Singh N, Priyanka, Singh R, Dhamija S, Bhalla K, Mehra S.   +5 more
europepmc   +1 more source

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre. [PDF]

Int J Dev Neurosci
Rodrigues ASR, Silva PYF, Rodrigues RP, Pinho KGFD, da Costa Penha S, Leite ÁJM.   +5 more
europepmc   +1 more source

Malnutrition in Children with Congenital Zika Virus Syndrome: A Systematic Review. [PDF]

Matern Child Health J
da Silva DS, Dos Santos LKC, Barbosa SS, Costa ÁDS, Arrais NMR, Ribeiro KDDS, Lopes MMGD, Lopes MMGD.   +7 more
europepmc   +1 more source

Expression of Purinergic and Endothelial Activation Markers in Brain Tissue From Fatal Microcephaly Associated With ZIKV. [PDF]

Immun Inflamm Dis
Sousa JR, Batista Ferro G, Vieira Teixeira L, Silva C, Lima L, Neto O, Azevedo R, Chiang JO, Casseb LMN, Filho AJM, Martins LC, Quaresma JAS, Vasconcelos PFDC.   +12 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