Results 131 to 140 of about 69,523 (324)

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Iascone, Laura Pezzoli, Maria Lisa Dentici, Antonio Novelli, Michelina Armando, Daniela Longo, Giuseppe Novelli, Domenico Barbuti, Andrea Bartuli, Ugo Cavallari, Ludovico Graziani, Maria Cristina Digilio, Lorenzo Sinibaldi   +17 more
wiley   +1 more source

Workshop on embryology of cleft lip and cleft palate [PDF]

, 1968
F. Clarke Fraser
openalex   +1 more source

Nutritional Aspects in the Care of the Child with Cleft Lip and Palate [PDF]

, 1978
Proper nutrition is essential in the care of the infant with cleft lip or palate, as these infants are often plagued with feeding difficulties from birth.
Keitel, Mary E.
core   +1 more source

Evaluation of Information Provided by ChatGPT Versions on Traumatic Dental Injuries for Dental Students and Professionals

Dental Traumatology, EarlyView.
ABSTRACT Background/Aim The use of AI‐driven chatbots for accessing medical information is increasingly popular among educators and students. This study aims to assess two different ChatGPT models—ChatGPT 3.5 and ChatGPT 4.0—regarding their responses to queries about traumatic dental injuries, specifically for dental students and professionals ...
Zeynep Öztürk, Cenkhan Bal, Beyza Nur Çelikkaya   +2 more
wiley   +1 more source

Evaluation of Receptive and Expressive Vocabulary in 6-18 Month’s-old Children With Cleft Lip and Palate

Iranian Rehabilitation Journal, 2016
Objectives: One of the factors predicting language impairments is an early limited lexicon in children. An early limited lexicon can also lead to limited performances in other language areas.
Leila Sedaghati, Akbar Darouie, Fatemeh Derakhshande, Mehrdad Memarzade, Behzad Mahaki   +4 more
doaj  

Designing a Fully Online Work‐Integrated Learning Module for Craniofacial Orthodontics

European Journal of Dental Education, EarlyView.
ABSTRACT Introduction Research has found that orthodontists often lack the knowledge and confidence to engage in craniofacial orthodontics, such as treating cleft‐lip and palate patients. This gap highlights the need for an educational strategy that enhances skills transfer in this sub‐speciality.
Emad Ghabrial, Mari van Wyk, Thomas Corné Postma   +2 more
wiley   +1 more source

Three-dimensional analysis of palatal morphology and PAS in patients with cleft lip and palate prior to orthodontic treatment

Head & Face Medicine
Background Since many different conclusions of craniofacial anomalies and their relation to the posterior airway space coexist, this comparative clinical study investigated the palatal morphology concerning volumetric size, posterior airway space ...
Maike Tabellion, Jörg Alexander Lisson
doaj   +1 more source

The history and evolution of cleft surgery in India

Indian Journal of Plastic Surgery, 2005
H S Adenwalla, P V Narayanan, C J Rajshree   +2 more
doaj   +1 more source

The causes and natural history of cleft lip and palate [PDF]

, 1968

openalex   +1 more source