Results 81 to 90 of about 9,047 (211)

Consequences in the developing cranial deformities [PDF]

open access: yes, 2012
A partir de la campaña de prevención de la muerte súbita en los lactantes, han aumentado los casos documentados de deformidades craneales, sin una etiología clara y con unas consecuencias por determinar. La falta de expansión del encéfalo en determinadas
González Bernal, Jerónimo   +1 more
core   +1 more source

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
This study describes a girl with DEE, in whom WGS identified candidate variants in HNRNPU, NIPBL, and KANSL1, with only the de novo HNRNPU variant being causative, while the inherited KANSL1 variant, located in a non‐functional duplicated locus, did not contribute to the phenotype.
Daria Akimova   +3 more
wiley   +1 more source

Demographic profile of 266 mother-infant dyads presenting to a multidisciplinary breast-feeding clinic: a descriptive study [PDF]

open access: yes, 2017
Worldwide, sustained breastfeeding rates are lower than optimal. Mothers and infants with suboptimal breastfeeding present to a wide variety of practitioners to assist their goal of total breastfeeding.
Miller, A.   +3 more
core  

A critical evaluation of the Down syndrome diagnosis for LB1, type specimen of Homo floresiensis [PDF]

open access: yes, 2016
The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004.
Baab, Karen L   +6 more
core   +4 more sources

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

open access: yesClinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl   +15 more
wiley   +1 more source

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

open access: yes, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush   +3 more
core   +1 more source

Review of human osseal remains from XVI-XVIII centuries cemetery of Zatveretsky Posad (Tver, Russia) [PDF]

open access: yes, 2010
Human osseal remains from the cemetery of Zatveretsky Posad at the historical Russian city of Tver revealed the data on its population in XVI-XVIII centuries.
Andrei V Zinoviev
core   +1 more source

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach [PDF]

open access: yes, 2017
Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable.
Bishop, N., Marr, C., Seasman, A.
core   +1 more source

Assessment of Registration Methods for Cranial 3D Modelling

open access: yesProceedings, 2019
Three-dimensional (3D) models are a useful tool for cranial deformation analysis in infants. The registration of the head 3D models to a known coordinate system is vital for the obtainment of parameters and indexes that quantify deformation.
Inés Barbero-García, José Luis Lerma
doaj   +1 more source

Use physical therapy to head off this deformity in infants [PDF]

open access: yes, 2009
Identify infants with positional preference early and consider referral to pediatric physical therapy at 7 or 8 weeks to prevent severe deformational plagiocephaly (DP).
Ewigman, Bernard   +3 more
core  

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