Results 141 to 150 of about 66,379 (259)

Abnormal muscle of the floor of the mouth.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1988
H, Marais, J H, Meiring
openaire   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Facial asymmetry and mandibular hypomobility as early indicators of temporomandibular joint involvement in juvenile idiopathic arthritis. [PDF]

Reumatologia
Pawlaczyk-Kamieńska T.
europepmc   +1 more source

Visualization and quantification of nebulized aerosol deposition in mouth-lung casts under healthy and abnormal breathing conditions [PDF]

Lungs and Breathing, 2018
Benjamin Wells, Nathan Guest, Jonathan Martinez, Emmanuel Hakizimana, Xiuhua April Si, Wei-Chung Su, Jinxiang Xi   +6 more
openaire   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A rare variant of oromandibular limb hypogenesis syndrome: a case report of glossopalatal ankylosis. [PDF]

Front Dent Med
Chopra S, B V, Singh E, Parashar A, Dandge M.   +4 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Multimodal deep learning with anatomically constrained attention for screening MRI-detectable TMJ abnormalities from panoramic images. [PDF]

NPJ Digit Med
Jung HJ, Ju D, Kim C, Hwang SJ, Lee C, Park Y.   +5 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Correlation Between Osseous Degenerative Changes on Cone Beam Computed Tomography and Disc Displacement on Magnetic Resonance Imaging in Temporomandibular Joint Osteoarthritis. [PDF]

Acta Stomatol Croat
Prenc M, Badel T, Bilić B, Drev EN, Hager J, Žižek H, Smoljan Basuga M, Zadravec D.   +7 more
europepmc   +1 more source