Results 61 to 70 of about 23,899 (291)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia

open access: yesActa Medica Iranica, 2017
Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases.
Arya Sotoudeh   +4 more
doaj  

Body donor programs in Australia and New Zealand: Current status and future opportunities

open access: yesAnatomical Sciences Education, Volume 18, Issue 3, Page 301-328, March 2025.
Abstract Body donation is critical to anatomy study in Australia and New Zealand. Annually, more than 10,000 students, anatomists, researchers, and clinicians access tissue donated by local consented donors through university‐based body donation programs. However, little research has been published about their operations.
Rebekah A. Jenkin, Kevin A. Keay
wiley   +1 more source

Management of ambiguous genitalia in ile ife, Nigeria: Challenges and outcome

open access: yesAfrican Journal of Paediatric Surgery, 2009
Background: Ambiguous genitalia are a major cause of parental anxiety and can create social problems if not properly managed. Diagnosis and management can however be challenging. The aim of this study is to highlight some of the challenges in management
Sowande Oludayo, Adejuyigbe Olusanya
doaj  

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

open access: yes, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M.   +2 more
core  

Fear of devaluation : understanding the experience of intersexed women with androgen insensitivity syndrome [PDF]

open access: yes, 2004
Objectives: We aim to provide an understanding of the psychological sequela of Androgen Insensitivity Syndrome (AIS) in phenotypic females in order to begin to inform psychosocial health care services.
Alderson, J., Balen, A., Madill, A.
core   +1 more source

Development of interactive MRI‐based 3D visualization tools for neuroanatomy education in Latin America

open access: yesAnatomical Sciences Education, EarlyView.
Abstract The study of neuroanatomy is fundamental in many scientific fields. Despite this, it is a challenging subject for students. As technology evolves, it is being increasingly incorporated into educational methods, including the teaching of neuroanatomy. Three‐dimensional (3D) visualizations are well suited for displaying neuroanatomy.
Merlin J. Fair   +5 more
wiley   +1 more source

Unusual morphology of isolated male epispadia: A rare case report

open access: yesUrology Case Reports
In less than 10% of cases, males may have isolated epispadias, which is caused by failure in the urethral tubularization process, leading to dorsal urethral defect.
Kevin Anthony Glorius Tampubolon   +1 more
doaj   +1 more source

Modern competency‐based teaching of human sexual development

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler   +2 more
wiley   +1 more source

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