Results 121 to 130 of about 80,031 (305)

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

SMILE and Beam On [PDF]

International Journal of Radiation Oncology*Biology*Physics, 2021
Sarah A, Milgrom, Bradley M, Haverkos
openaire   +2 more sources

Small incision lenticule extraction (SMILE) techniques: patient selection and perspectives

, 2018
Jeewan S Titiyal, Manpreet Kaur, Farin Shaikh, Meghal Gagrani, Anand Singh Brar, Anubha Rathi Cornea, Cataract and Refractive Surgery Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India
Gagrani M, Kaur M, Shaikh F, Titiyal JS, Brar AS, Rathi A   +5 more
core  

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Feasibility study of treatment of mixed astigmatism with small-incision lenticule extraction (SMILE) by using research software

Indian Journal of Ophthalmology
Purpose: To report the preliminary experience and initial clinical results following SMILE for the treatment of mixed astigmatism. Methods: Thirteen eyes of nine patients with a mean age of 27 ± 4.36 years were included in the series.
Sri Ganesh, Sheetal Brar, Shilpi Bose, Mamta Lakhana Shah   +3 more
doaj   +1 more source

Bringing Back Smiles That Never Smiled

South Asian Journal of Cancer, 2023
openaire   +3 more sources

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Smile, a Little, Smile for Me

, 1917
First Line: Tho' your plans I've quite unsettledFirst Line of Chorus: Smile smile just a little smileTitle of Larger Work: Rambler RoseKey: G ...

core  

Quality-driven programming in global surgery: A 30-Year institutional experience delivering safe, timely and effective surgical care

Annals of Global Health, 2015
L.C. Carlson, K.W. Hatcher, R. Ayala, W.P. Magee, R. Vander Burg   +4 more
doaj   +1 more source

Effect of lip position and gingival display on smile and esthetics as perceived by college students with different educational backgrounds

, 2013
Khalid H Zawawi,1 Ghadah A Malki,2 Mohammad S Al-Zahrani,3 Yaser M Alkhiary4 1Department of Preventive Dental Science, Faculty of Dentistry, King Abdulaziz University, 2Consultant Pediatric Dentist, North Jeddah Dental Specialty Center, 3Department of ...
Malki GA, Zawawi KH, Al-Zahrani MS, Alkhiary YM   +3 more
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