Results 211 to 220 of about 176,527 (262)

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

American 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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Comparative legal and bioethical perspectives on euthanasia and assisted suicide: a systematic review of european frameworks. [PDF]

BMC Med Ethics
Francés Vañó L, Sanchís-López A, Arce-Recatalá C.   +2 more
europepmc   +1 more source

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

American 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, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Factors Associated With Evolution of the Use of Medical Assistance in Dying: Protocol for a Scoping Review. [PDF]

JMIR Res Protoc
Marcoux I, Lavoie D, Bergeron A, Beaudin A, Lemyre S, Bourgeois-Guérin V, Bravo G, Hébert M, Simard C, Ummel D, Perron C, Bouthillier ME.   +11 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

U.S. Immigration Policy Environment Contributions to Maternal and Child Health in the Latino Population. [PDF]

Int J Environ Res Public Health
Lebron CN, McSorley AM, Morales V, Peterson HT, Morales V.   +4 more
europepmc   +1 more source

Healthcare professionals' perspectives on usefulness, acceptability and implementation conditions of socially assistive robots in France: a cross-sectional survey and cluster analysis. [PDF]

Front Digit Health
Blavette L, Dacunha S, Bondarenko A, Piccoli M, Rigaud AS, Pino M.   +5 more
europepmc   +1 more source

Housing instability and economic insecurity across the continuum of active substance use, treatment, and recovery among women involved in the criminal legal system. [PDF]

Womens Health (Lond)
Skogseth EM, Harrison E, Brant K, Latkin C, Quadri OH, Jones AA.   +5 more
europepmc   +1 more source

Interprofessional collaboration in primary care in Germany - collective irresponsibility, one-way-street or colourful bouquet of services? A qualitative study with stakeholders from various professions. [PDF]

Eur J Gen Pract
Mink J, Altiner A, Schwill S.
europepmc   +1 more source