Results 141 to 150 of about 286,325 (326)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Which emoji are markers of sarcasm among Chinese teenagers using the WeChat app?

Heliyon
This study explored emoji-based sarcastic statements made by Chinese teenagers using the WeChat app. Two experiments (N = 597) were conducted to investigate both language production and comprehension.
Jing Cui, Yu R. Dandan, Bo Yang, Youping Jing   +3 more
doaj   +1 more source

Randomized SMILES Strings Improve the Quality of Molecular Generative Models

, 2019
Josep Arús‐Pous, Simon Johansson, Oleksii Prykhodko, Esben Jannik Bjerrum, Christian Tyrchan, Jean‐Louis Reymond, Hongming Chen, Ola Engkvist   +7 more
openalex   +1 more source

Bringing Back Smiles That Never Smiled

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

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Identifying Differences Between a Straight Face and a Posed Smile Using the Homologous Modeling Technique and the Principal Component Analysis

, 2019
Kousuke Yasuda, Hiroyuki Nakano, Tomohiro Yamada, Safieh Albougha, Kazuya Inoue, Azusa Nakashima, Yu Kamata, Goro Sugiyama, Shiho Tajiri, Tomoki Sumida, Katsuaki Mishima, Yoshihide Mori   +11 more
openalex   +2 more sources

A CLINICAL STUDY OF ASSESSMENT OF GINGIVAL ELEMENTS IN SMILE DESIGNING.

, 2017
MayaS Indurkar, M Abinesh.
openalex   +1 more source

Smile Train: The ascendancy of cleft care in India [PDF]

, 2009
Subodh Kumar Singh
openalex   +1 more source

Three-dimensional analysis of posed smile in adults: A scoping review

, 2023
Patcharamas Banditsaowapak, Johnson Hsin-Chung Cheng, Daniel De-Shing Chen, Michelle Yuching Chou   +3 more
openalex   +1 more source