Results 141 to 150 of about 98,951 (323)
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American 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
Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]
, 2005 Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar +6 more
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Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American 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
Cardiac hemangioma of the right atrium in a neonate : fetal management and expedited surgical resection [PDF]
, 2005 Cardiac hemangioma is a rare tumor with a reported incidence of 1-2%. We describe the case of a neonate with a right atrial mass that was diagnosed prenatally. The fetus developed a supraventricular tachycardia and was delivered by cesarean section in
Campbell, A. +5 more
core +1 more source
Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome
American 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
Het platypneu-orthodeoxiesyndroom bij de geriatrische patiënt : presentatie, diagnostiek en therapie
, 2020 De ziektegeschiedenis van een 85-jarige vrouw met als klinische presentatie een triade van een longembolie, een ischemisch cerebrovasculair accident (CVA) en het platypneu-orthodeoxiesyndroom (POS) wordt beschreven.
Bultynck, Céline +4 more
core +1 more source
The Anatomical Record, Volume 308, Issue 12, Page 3230-3258, December 2025.Abstract Measurement error (ME) in geometric morphometrics has been the subject of countless articles, but none specific to the effect of time lags on landmark digitization error. Yet, especially for visiting scientists working on museum collections, it is not uncommon to collect data in multiple rounds, with interruptions of weeks or years. To explore
Andrea Cardini
wiley +1 more source
Anatomical Sciences Education, Volume 18, Issue 12, Page 1424-1439, December 2025.Abstract Entertainment is deeply rooted in education, from wise‐cracking teachers to health documentaries. In the context of anatomy, this already complex relationship is entwined with deeply significant ethical considerations, often related to the field's reliance on human tissue, yet it remains unexplored.
Lucas D. Wilmshurst +4 more
wiley +1 more source
Identifying a Cardiac Source of Embolism by Transesophageal Echocardiography: Review of a 12-Year Experience [PDF]
, 2007 INTRODUCTION: Peripheral embolism is frequently related to a cardiac source of embolism. Transesophageal echocardiography (TEE) is a useful tool for identifying such sources.
Abreu, J +8 more
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