Results 111 to 120 of about 52,765 (246)

Integrating Pythagorean fuzzy numbers into the graph model to resolve water resource conflicts in the Yellow River Basin. [PDF]

Sci Rep
Cao Y.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Construction of a comprehensive value assessment framework for renal denervation therapy: a decision-support tool for Chinese hospital management. [PDF]

Front Public Health
Liu C, Lin M, Xu F, Yan Y, Tao L.
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Discovery of Novel Molecular Scaffolds to Overcome <i>Pseudomonas aeruginosa</i> Aminoglycoside Resistance: Insights for a Consensus Scoring Rational Design Approach. [PDF]

Int J Mol Sci
Iesce F, Nelen J, Rodríguez-Martínez A, Martínez-Cortés C, Minnelli C, Mobbili G, Di Gregorio A, Vignaroli C, Pérez-Sánchez H, Galeazzi R.   +9 more
europepmc   +1 more source

A Novel Class of “Super‐Strained” Spiro Heterocycles: Gateway to 1‐Azaspiro[3.3]heptane Derivatives, and Biological Validation

Angewandte Chemie, EarlyView.
A new class of “super‐strained” spiro heterocycles—spirocyclic 1‐azabicyclo[1.1.0]butanes—was synthesized via insertion of cyclobutane‐, oxetane‐, and azetidine‐containing sulfonium reagents into substituted azirines. The stability of this new class of compounds was studied.
Philipp Natho, Annarita Vicenti, Marco Colella, Francesco Pasca, Giuseppe Romanazzi, Mauro Niso, Carmen Abate, Ernesto Mesto, Emanuela Schingaro, Renzo Luisi   +9 more
wiley   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Construction and refined management of a pre-prescription review system: a real-world study in a tertiary hospital. [PDF]

Front Pharmacol
Gui J, Zhang L, Liu D, Li S, Mou N, Li R, Xu Y, Hu J.   +7 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The Iranian Consensus on Self-Monitoring of Blood Glucose: An Expert Consensus. [PDF]

Med J Islam Repub Iran
Jahed SA, Nikoosokhan A, Hosseinpanah F, Esteghamati A, Abdi H, Amirbaigloo A, Malek M, Sedaghat S.   +7 more
europepmc   +1 more source