Results 221 to 230 of about 72,997 (336)

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

open access: yesClinical Genetics, Volume 109, Issue 1, Page 181-187, January 2026.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti   +17 more
wiley   +1 more source

Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. [PDF]

open access: yes, 2007
D'ARMIENTO, MARIA   +6 more
core   +1 more source

Communication about sexuality for adolescents with cerebral palsy and complex communication needs: A scoping review with framework synthesis

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 1, Page 49-63, January 2026.
We undertook a scoping review to understand communication about sexuality for adolescents with cerebral palsy and complex communication needs. We can understand communication about sexuality by examining the content, context, and influencing factors of that communication. This scoping review is commented on by Detandt on pages 8–9 of this issue.
Megan Walsh   +7 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Evaluating the Effectiveness of Nasoalveolar Molding in the Management of Children with Unilateral Cleft Lip and Palate: A Cohort Study. [PDF]

open access: yesDent J (Basel)
España-Guerrero A   +7 more
europepmc   +1 more source

Multidisciplinary Management of a Supernumerary Fused Tooth to Maxillary Central Incisor: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT A fused maxillary central incisor in an 11‐year‐old was successfully treated with a multidisciplinary approach, combining surgical sectioning, orthodontic realignment, and composite resin restoration. At 24 months follow‐up, the outcome was highly satisfactory, with no periapical pathosis or periodontal issues, highlighting the effectiveness ...
Firoozeh Alipour   +4 more
wiley   +1 more source

Effects of Food Preferences and Supplement Intake During Pregnancy on the Cleft Lip and Palate Incidence: The Japan Environment and Children's Study. [PDF]

open access: yesNutrients
Fujiwara K   +9 more
europepmc   +1 more source

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