Results 111 to 120 of about 1,954,850 (351)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Antonín Švehla a pozapomenuté diskuze, osnovy a návrhy realizovaných i nerealizovaných zákonodárných projektů jeho doby

Právněhistorické studie
The article deals with selected forgotten discussions on legal and sub-legal projects in period 1918–1929 when Antonín Švehla held important state executive positions.
Jiří Šouša
doaj   +1 more source

Children Abandoning Parents: What about Legal Sanctions?

Unnes Law Journal, 2019
Obligations of care to parents from adult children (alimony) is an obligation of every child that should not be overlooked. If obligations are not complete with good cause neglected elderly. Surely such neglect will result in the emergence of a sanction for the child.
openaire   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Assigning Responsibility for Gossypiboma (Abdominal Retained Surgical Sponges) in Operating Room

Journal of the Dow University of Health Sciences, 2012
Background and objective Retained surgical gauze is a well known but less frequently reported surgical error. Several factors can lead to this mishap. It remains under-reported due to medico legal issues associated with its occurrence.
Naveed Ali Khan, Naveed A Khan, Khursheed A Samo, Amna Bhatti, Rekha Jiswant Kumar, Maryum Nouman   +5 more
doaj   +2 more sources

Blueprint Buffalo Action Plan: Regional Strategies for Reclaiming Vacant Properties in the City and Suburbs of Buffalo [PDF]

, 2006
Over a period of about nine months, the NVPC team conducted interviews and gathered insights that have resulted in this report. During the study period, Buffalo–Niagara emerged as a region broadly challenged by decades of disinvestment and population ...
Schamess, Lisa, Schilling, Joseph
core   +1 more source

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

La importancia de la discusión metodológica entre Dworkin y el positivismo

Revista Latinoamericana de Filosofía, 2007
En este artículo analizo las diferentes estrategias del positivismo jurídico -especialmente, las relacionadas con el PostSCript de Herbert Hart- para defenderse de los argumentos que Ronald Dworkin ha venido utilizando desde hace más de treinta años.
Facundo García Valverde
doaj  

Case Note: Environmental Law - Harlem Valley Transportation Association v. Stafford, 500 F.2d 328 (2d Cir. 1974) [PDF]

, 1975
This Case Note analyzes the Second Circuit\u27s decision in Harlem Valley Transportation Association v. Stafford, which held that the interstate commerce commission, as the responsible agency, must make the threshold determination of whether an ...
Gerard, Helen
core   +1 more source

Legal Protection of Pregnant Women Patients Abandoned by Health Workers

Rechtsnormen: Journal of Law
Background. Health is an integral part of daily life, from birth to death, and is supported by various health workers in specific fields such as doctors, midwives, and pharmacists. Despite the availability of health facilities, cases of patient abandonment by health workers, particularly involving pregnant women, have been reported. Purpose.
Yudhistira Adi Pradila, Tina Marlina, Irma Maulida   +2 more
openaire   +1 more source