Results 181 to 190 of about 7,426 (229)

Amplitude Distribution Characteristics of the Tongue, Lower Lip, and Jaw in Talkers With Dysarthria Due to Parkinson's Disease. [PDF]

J Speech Lang Hear Res
Mefferd AS, Tjaden K, Dietrich MS, Brown AE.   +3 more
europepmc   +1 more source

Giovanni Antonio Scopoli's De Hydrargyro Idriensi Tentamina (1761): Mercury Mining, Mercurialism, and Preventive Reasoning in Eighteenth‐Century Occupational Medicine

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Giovanni Antonio Scopoli (1723–1788), a physician‐naturalist of the Enlightenment, is primarily remembered for his contributions to botany and entomology. Less attention has been paid to his medical work De hydrargyro Idriensi Tentamina physico‐chymico‐medica (1761), written during his fifteen years of service as physician at the mercury mines
Alberto Zanatta, Paola Mason, Sofia Bollini, Giovanni Magno   +3 more
wiley   +1 more source

Staged Full-Arch Rehabilitation With Tilted and Pterygoid Implants: A Pragmatic Hybrid Analog-Digital Workflow With 2-Year Follow-Up. [PDF]

Case Rep Dent
Liborio F, Sciarra FM, Di Vita E, Nigliaccio S, Fontana DA, Messina P, Cumbo EM, Scardina GA.   +7 more
europepmc   +1 more source

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

Comprehensive Prosthodontic Rehabilitation of a Completely Edentulous Adolescent With Cleft Lip and Palate and Multiple Facial Defects: A Case Report. [PDF]

Cureus
Yarra SP, Reddi N, Gujjalapudi M, Zakkula S, Nerella PP.   +4 more
europepmc   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen, Elleke Tissink, Reeteka Sud, Mandy Johnstone, Richard Josiassen, Andrea Lahti, Laura Huckins, Ariana Page, Stigma Reduction Interest Group of the ISPG, Jordan W. Smoller, Jehannine Austin, Janneke Zinkstok, Sarah E. Medland, Rada Veeneman, Anna R. Docherty   +14 more
wiley   +1 more source

An Imaging-Guided Neural Model Explains Lexical Stress Alteration in Acquired Apraxia of Speech. [PDF]

Hum Brain Mapp
Civier O, Ramage A, Tourville J, Robin DA, Guenther FH, Ballard KJ.   +5 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Quality assurance in orthognathic surgery using Brons-Mulié's soft tissue analysis, Nakamura's asymmetry index and a simple Enface analysis. [PDF]

Front Oral Health
Böttger S, Herrmann S, Schraml EM, Danevitch N, Pons-Kühnemann J, Mulié R, Howaldt HP, Streckbein P.   +7 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source