Results 181 to 190 of about 7,898,042 (368)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Indigenous and institutional profile: Limpopo River Basin [PDF]

River basins / Water resource management / History / Institutions / Social aspects / Legal ...
Earle A, Goldin J., Machiridza R, Malzbender D, Manzungu E, Mpho T   +5 more
core  

（書評）「List of Books and Articles on Law and Politics (1952) (J. S. R. No. 5.) Legal History邦澤」

, 1954

openalex   +2 more sources

Contest and Consent: A Legal History of Marital Rape [PDF]

, 2000
Jill Elaine Hasday
openalex   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

A common law power to dissect: a medico-legal history. [PDF]

Med Law Rev
Shaw J.
europepmc   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

A hybrid fuzzy logic-Random Forest model to predict psychiatric treatment order outcomes: an interpretable tool for legal decision support. [PDF]

Front Artif Intell
Hudon A.
europepmc   +1 more source

T. Akai, Brolegomena to the Study in the History of Hebrew Legal Thoughts

, 1970
Masao Sekine
openalex   +2 more sources

Equitable Collaboration Between LMIC and HIC Researchers, Part I: A Preliminary Framework for Capacity Building in Psychiatric Genetics Research

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT International collaborations between high‐income countries (HICs) and low‐ and middle‐income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant ...
Brenda Cabrera‐Mendoza, Margit Burmeister, Marcella Rietschel, David Crepaz‐Keay, Yatan Pal Singh Balhara, Soraya Seedat, Victoria Marshe, Sian Hemmings, Roseann Peterson, Ruchika Kaushik, Biju Viswanath, Reeteka Sud, Partha Haldar, Mandy Johnstone, Anish V. Cherian, Todd Lencz, Janneke Zinkstok, Renato Polimanti, Daniel J. Mueller, Gabriel Lázaro‐Muñoz, Chunyu Liu, Nurnberger John I, Humberto Nicolini, Consuelo Walss‐Bass, Marcos Santoro, Sujata Satapathy, Chittaranjan Behera, Anna R. Docherty   +27 more
wiley   +1 more source