Results 211 to 220 of about 2,346,293 (359)

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Kate Neal, Heather J. Church, James A. Cooper, Karolina M. Stepien   +8 more
wiley   +1 more source

Illegal reintroductions of lynx are irresponsible and the wrong path forward for rewilding in Scotland. [PDF]

Ambio
Whitehead T.
europepmc   +1 more source

Four Leagues of Pecos: A Legal History of the Pecos Grant, 1800-1933

, 1985
William B. Taylor, G. Emlen Hall
openalex   +2 more sources

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Genetic discrimination in insurance and employment based on personalized risk stratification for breast cancer screening. [PDF]

Front Genet
Reveiz M, Bouhouita-Guermech S, Blackmore KM, Chiquette J, Demers É, Dorval M, Lambert-Côté L, Nabi H, Pashayan N, Soucy P, Turgeon A, Walker MJ, Knoppers BM, Chiarelli AM, Simard J, Joly Y.   +15 more
europepmc   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

Ethical, Legal, and Social Assessment of AI-Based Technologies for Prevention and Diagnosis of Rare Diseases in Health Technology Assessment Processes. [PDF]

Healthcare (Basel)
Refolo P, Raimondi C, Astratinei V, Battaglia L, Borràs JM, Closa P, Lo Scalzo A, Marchetti M, Muñoz-López S, Sampietro-Colom L, Sacchini D.   +10 more
europepmc   +1 more source

Advances and Altered Perspectives in English Legal History

, 1982
Richard H. Helmholz, Morris S. Arnold, Thomas A. Green, Sally A. Scully, Stephen D. White   +4 more
openalex   +2 more sources

F. Murray Greenwood et Barry Wright, dir. Canadian State Trials, vol. II: Rebellion and Invasion in the Canadas, 1837-1839. Toronto, The Osgoode Society for Canadian Legal History by University of Toronto Press, 2002. 499 p. [PDF]

, 2004
Michel Ducharme
openalex   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source