Results 111 to 120 of about 55,249 (248)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Association Between Criminal Legal System Involvement and HIV Prevention and Care Among Transgender Women of Color: The TURNNT Cohort Study. [PDF]

open access: yesLGBT Health
Furuya A   +13 more
europepmc   +1 more source

Why the inflation in legislation on women’s bodies

open access: yes
This dissertation argues that historical patriarchal theories have crept into the world’s legal systems to date, and as a result this has led to inflation in legislation upon women’s bodies. The author seeks to prove that patriarchal theories have become
McLean, Venessa
core  

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad   +6 more
wiley   +1 more source

Addressing Barriers to Transitioning Pediatric Patients With Epilepsy to Adult Health Care in the United States: A Narrative Review. [PDF]

open access: yesNeurol Clin Pract
Perry MS   +6 more
europepmc   +1 more source

The legal orders of the European Community and of the Member States: peculiarities and influences in drafting

open access: yes, 2005
Article on legislative drafting of legal orders in the European Community and its Member States based on the Fourth Annual Sir William Dale Memorial Lecture given by Jean-Claude Piris, Director-General, Legal ...
Piris, Jean-Claude
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

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