Results 191 to 200 of about 8,912,908 (372)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Is Self-Sufficiency Really Sufficient? A Critical Analysis of Federal Refugee Resettlement Policy and Local Attendant English Language Training in Portland, Oregon

, 2000
Domminick McParland
openalex   +2 more sources

Communication Policy at the Chalk Face in Scotland and Jamaica: Complexity as a New Paradigm for Understanding Language Policy Interpretation and Implementation [PDF]

, 2003
Beth Cross
openalex   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Evaluating language policy implementation in South African higher education - three decades of progress and challenges: A scoping review protocol. [PDF]

PLoS One
Ngcobo SJ, Zhandire T, Luvuno ZM, Chiya WH, Nxumalo CT, Mazibuko GB, Ncama BP, Duma SE, Naidoo D.   +8 more
europepmc   +1 more source

Building expectations: Imagining family language policy and heteroglossic social spaces

, 2019
Judith Purkarthofer
semanticscholar   +1 more source

Language Policy and Bilingual Education for Immigrant Students at Public Schools in Japan

, 2000
Naomi Asakura
openalex   +2 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Critical Discourse Analysis of the Manifestations of English Linguistic Challenges: The Case Of The New Draft Language Policy In The South African Police Services

NUST Journal of Social Sciences and Humanities
This study explores some of the reasons why, in spite of the recently introduced new draft SAPS Language Policy, the SAPS training programme is not producing police officers with adequate English competency that is relevant to the SAPS workplace.
Tebogo Johannes Kekana, Malesela Edward Montle   +1 more
doaj  

Family language policy and heritage language transmission in Pakistan-the intersection of family dynamics, ethnic identity and cultural practices on language proficiency and maintenance. [PDF]

Front Psychol
Fatima S, Nadeem MU.
europepmc   +1 more source