Results 171 to 180 of about 11,561,015 (310)

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

Barriers, challenges, and facilitators in oral health care for older adults in home-based care: stakeholder perspectives from germany. [PDF]

BMC Geriatr
Porzelt S, Koenig A, Heyke M, Behrens-Potratz A, Stratmeyer P, Schmage P, Konnopka C, Schellhammer S, Scherer M, Konnopka A, Zimmermann T, InSEMaP group.   +11 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

ON THE PHONETIC ASPECT OF TEACHING FRENCH

Многоязычие в образовательном пространстве
The article discusses the place of phonetics in teaching French. The importance of a theoretically based approach to the training of French sounds and proso-dy - the sequence of vowels under study to facilitate the consolidation of articulatory skills ...
L.P. Morozova
doaj  

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

An ethnography of reading in a spiritist study group

Horizontes Antropológicos
As a religion, Kardecism confers fundamental importance to the study of its own body of literature, understood as the complement to religious revelation.
Bernardo Lewgoy, David Allan Rodgers
doaj  

Patient-Reported Perceptions of Surgical Informed Consent Communication in Elective General Surgery: A Cross-Sectional Study in a Chinese Tertiary Hospital. [PDF]

Patient Prefer Adherence
Ouyang Y, Lan L, Yue Y, Lei X, Huang M.
europepmc   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Performance of Large Language Models in Oral Cancer Patient Education: An Evaluation of Reliability, Readability, and Patient Communication Quality. [PDF]

Oral Health Prev Dent
Zhang B, Shi W, Zhang Y.
europepmc   +1 more source