Results 121 to 130 of about 618,648 (346)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Editorial introduction: urban management in developing economics: challenges for public policy [PDF]

, 2017
Amit Basole, Rajesh Bhattacharya
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

A simple form could prevent authorship issues in Cochrane manuscripts: A cohort study

Cochrane Evidence Synthesis and Methods
Aim We aimed to investigate authorship issues after the implementation of an authorship declaration form in a Cochrane Review Group. Methods The Cochrane Colorectal Group uses an authorship declaration form that consists of three parts: (1) manuscript ...
Siv Fonnes, Kristoffer Andresen, Stina Öberg, Jason Joe Baker, Jacob Rosenberg   +4 more
doaj   +1 more source

Editorial: Schizophrenia Bulletin Policy and Plans [PDF]

, 1988

openalex   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Suggestions for Exercise Science's Promotion to a Top-Tier Journal in the Category of Sports Science [PDF]

운동과학, 2022
Sun Huh
doaj   +1 more source

Unauthorized Migration and Border “Control”: Three Regional Views [PDF]

, 2008
This is a revised transcript of a talk given at the Latin American and Iberian Institute at the University of New Mexico, Albuquerque, New Mexico, on February 29 ...
Cook, Maria Lorena
core   +1 more source

‘People Need to Understand That They Are Stealing From Their Neighbours’: A Critical Media Analysis of the Representations and Resistance Throughout the Robodebt Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Robodebt scheme issued thousand‐dollar debts to an estimated half a million people who had received social security. The debts were largely inaccurate and illegal, with the aim of improving the federal government's budget. The 2023 Royal Commission into the Robodebt Scheme found that the stigmatising political and public language about ...
Ella Kruger, Phillipa Evans
wiley   +1 more source

Recent Changes to the Editorial Policies. [PDF]

J Cancer Allied Spec, 2020
Nasir KS.
europepmc   +1 more source