Results 161 to 170 of about 281,028 (299)

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Deprotonation and Alkylation of Weakly Acidic C(sp3)─H Bonds Through In Situ Generation of a Strong Hydride Base From 1,1,3,3‐Tetramethyldisiloxane and Potassium tert‐Butoxide

Angewandte Chemie, EarlyView.
The use of 1,1,3,3‐tetramethyldisiloxane (TMDSO) and potassium tert‐butoxide enables direct alkylation of weakly acidic carbon–hydrogen bonds with alkyl halides. Experimental and computational studies support the formation of a substrate‐associated hydride‐like base, providing a single‐step alternative to the classical deprotonation and electrophile ...
Piers St. Onge, Brandon White, Han Yao, Travis Dudding, Stephen G. Newman   +4 more
wiley   +2 more sources

Three-dimensional conjugate fluid-solid modeling of joint transport phenomena during frying of potato at variable oil temperatures. [PDF]

Curr Res Food Sci
Dehghannya J, Safari A, Ghanbarzadeh B.
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Purple Potato and Its Polyphenols Modulate Cecal Fermentation in Rats. [PDF]

Prev Nutr Food Sci
Chiba M, Kilua A, Nagata R, Shimada K, Tani M, Han KH, Fukushima M.   +6 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Transcriptomics and overexpression analyses reveal StERF87 confers resistance to Ralstonia solanacearum in potato. [PDF]

Plant Cell Rep
Yu R, Gao M, Cai L, Wang S, Chen Q, Guan P, Lin C, Zhang X, Zheng S, Jiang L, Wang J, Hu L.   +11 more
europepmc   +1 more source

Artificial Intelligence and Access to Justice at the ‘Shop Front’: The Potential and Limitations of Meeting Legal Need Through Technology

Australian Journal of Social Issues, EarlyView.
ABSTRACT In Australia, governments fund Community Legal Centres (CLCs) as part of the legal assistance sector (LAS) to meet the ‘legal needs’ of people experiencing disadvantage who cannot afford private legal services. Persistent unmet demand for CLCs is well‐documented. As artificial intelligence (AI) is increasingly used in private legal practice to
Catherine Hastings, Art Cotterell, Farzana Bruce   +2 more
wiley   +1 more source

Effect of Vegetable Feedstock Minerals on Biochar Structure and CO₂ Uptake. [PDF]

ACS Omega
Sakamoto K, Hasukawa Y, Koiwai R, Tashiro T, Garcia-Escobar F, Takahashi L, Takahashi K.   +6 more
europepmc   +1 more source

Identifying the Service Requirements for Primary Sexual Assault Medical Care and Forensic Evidence Collection in a Remote First Nations Community

Australian Journal of Social Issues, EarlyView.
ABSTRACT First Nations female sexual assault survivors in remote Northern Territory (NT) face significant barriers accessing place‐based medical care and forensic evidence collection, subsequently requiring evacuation to specialist services. Using decolonising Participatory Action Research methods, this study identified the workforce, training, and ...
Theresa Clasquin, Rachel Dikul Baker, Rosemary Gundjarranbuy, Annie Whybourne, Sue Kildea, Sue Kruske, Elaine Ḻäwurrpa Maypilama, Sarah Ireland   +7 more
wiley   +1 more source