Results 151 to 160 of about 33,811 (292)

Conceptualising quality early childhood education: Learning from young children in Brazil and South Africa through creative and play‐based methods

British Educational Research Journal, EarlyView., 2023
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright, Irene Rizzini, Malibongwe Gwele, Lynn McNair, Cristina Laclette Porto, Marsha Orgill, E. Kay M. Tisdall, Malcolm Bush, Linda Biersteker   +8 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Radiographic Progression With and Without Prostate-Specific Antigen Rise in Patients With Advanced Prostate Cancer Treated With Enzalutamide. [PDF]

J Clin Oncol
Armstrong AJ, Azad AA, Iguchi T, Stenzl A, Mottet N, Russell D, Rosales M, Haas GP, Saad F, Hussain M, Sternberg CN.   +10 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Testing an intergenerational cascade model of adolescent family and individual functioning, young adult Romantic competence, and third-generation child adjustment: Developmental processes and PROSPER intervention effects. [PDF]

Dev Psychopathol
Fosco GM, Van Ryzin MJ, Albright CA, Ha SC, Feinberg ME.   +4 more
europepmc   +1 more source

Prosper Menière

Archives of Pathology & Laboratory Medicine, 2000
openaire   +2 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Amoxicillin-Induced Drug-Induced Liver Injury Superimposed on Acute Hepatitis C Infection in a Patient With Hurler Syndrome: A Diagnostic Challenge Assessed by the Updated RUCAM. [PDF]

Case Reports Hepatol
Garg A, Seshie P, Chouthai A, Raval S, Santharaman A, Manzoor A, Broder A.   +6 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

Development of a process model of posttraumatic growth in psychosis: a qualitative study. [PDF]

Front Psychiatry
Ng F, Ingall BR, Booth S, Geeleher M, Harrison J, Holden M, Lewandowski F, Mazor Y, Roe D, Slade M.   +9 more
europepmc   +1 more source