Results 131 to 140 of about 22,740 (195)

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

Ital J Pediatr, 2019
Pavone P, Corsello G, Cho SY, Pappalardo XG, Ruggieri M, Marino SD, Jin DK, Marino S, Falsaperla R.   +8 more
europepmc   +1 more source

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Prevalence and Clinical Attributes of Congenital Microcephaly - New York, 2013-2015. [PDF]

MMWR Morb Mortal Wkly Rep, 2017
Graham KA, Fox DJ, Talati A, Pantea C, Brady L, Carter SL, Friedenberg E, Vora NM, Browne ML, Lee CT.   +9 more
europepmc   +1 more source

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. [PDF]

Am J Hum Genet, 2019
Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL.   +10 more
europepmc   +1 more source

Ten Years of Congenital Zika Syndrome: From Outbreak to a Decade of Clinical, Therapeutic, and Preventive Advances in a Tropical Disease Context. [PDF]

Trop Med Infect Dis
Pessoa FS.
europepmc   +1 more source

Discordant imaging findings in dizygotic twins with known exposure to maternal ZIKV infection during initial stages of pregnancy. [PDF]

IDCases
Adami-Teppa F, Marquez M, Escalona-Rodriguez MA, Blohm GM, Ascanio LC, Sordillo E, Lednikcy JA, Paniz-Mondolfi AE.   +7 more
europepmc   +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

High Background Congenital Microcephaly in Rural Guatemala: Implications for Neonatal Congenital Zika Virus Infection Screening. [PDF]

Glob Health Sci Pract, 2017
Rick AM, Domek G, Cunningham M, Olson D, Lamb MM, Jimenez-Zambrano A, Heinrichs G, Berman S, Asturias EJ.   +8 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