Results 181 to 190 of about 1,931,717 (340)

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Healthcare Professionals' Experiences of Brief Admission by Self-Referral for Adolescents with Self-Harm at Risk of Suicide-A Qualitative Interview Study. [PDF]

Behav Sci (Basel)
Lindkvist RM, Landgren K, Eberhard S, Johansson BA, Rask O, Westling S.   +5 more
europepmc   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Correction: Associations of MIND and DI-GM dietary scores with depression, anxiety, and gut microbiota in patients with colon cancer: a cross-sectional study. [PDF]

Front Nutr
Meng Y, Tian J, Li XX, Xu Z.
europepmc   +1 more source

Consultation document : should the Welsh Government apply the ‘Articles’ in the United Nations Convention on the Rights of the Child (UNCRC) to young people aged 18-24yrs? Welsh Government [PDF]

, 2012

core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Use of assent documents and supportive pediatric care practices: results from a national survey in Japan. [PDF]

BMC Med Ethics
Unzaki A, Ohnuki Y, Suzuki MY, Mori T, Takeshita K.   +4 more
europepmc   +1 more source

I Know the Child Is My Client, but Who Am I? [PDF]

, 1996
England, Sharon S., Shepherd, Jr., Robert E.   +1 more
core   +1 more source

Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett, Michael McGann, Mark Considine, René Rejón   +3 more
wiley   +1 more source

The orthodontic treatment needs of high school students within the Buffalo City Metropolitan Municipality - a cross-sectional study. [PDF]

BMC Oral Health
Jeram CR, Nyakale MD, Kimmie-Dhansay F.
europepmc   +1 more source