Results 121 to 130 of about 22,198 (205)

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Novel Reassortants of Oropouche Virus (OROV) Are Causing Maternal-Fetal Infection During Pregnancy, Stillbirth, Congenital Microcephaly and Malformation Syndromes. [PDF]

Genes (Basel)
Schwartz DA.
europepmc   +1 more source

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome [PDF]

, 2020
openaire   +1 more source

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. [PDF]

Neurol Genet, 2018
Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.   +38 more
europepmc   +1 more source

Porencephaly-microcephaly-bilateral congenital cataract syndrome [PDF]

, 2020
openaire   +1 more source

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

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, Volume 36, Issue 3, Page 326-328, March 2026.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
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

GAIA Level 2 Prenatally Diagnosed Congenital Microcephaly [PDF]

, 2020
openaire   +1 more source