Results 241 to 250 of about 88,636 (324)

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

open access: yesJAMA Neurology, 2017
A. Melo   +28 more
semanticscholar   +1 more source

Can SARS-CoV-2 Be a Potential Cause of Microcephaly?

open access: diamond
Gonca Keskindemirci   +3 more
openalex   +1 more source

Association of arthrogryposis in neonates with microcephaly due to Zika virus - a case serie [PDF]

open access: diamond, 2016
Ana Catarina Matos Ishigami Alvino   +2 more
openalex   +1 more source

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

open access: green, 2023
Amanda Thomas‐Wilson   +19 more
openalex   +2 more sources

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi   +5 more
wiley   +1 more source

1 Mb Deletion in 10q26.3 and the Likely Pathogenic Variant in the TRIO Gene: A Twin Case Study Challenging Their Role in Autism Diagnosis. [PDF]

open access: yesCase Rep Pediatr
Lakatošová S   +10 more
europepmc   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]

open access: yesOxf Med Case Reports
Balaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc   +1 more source

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