Results 141 to 150 of about 76,951 (280)

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

PREMOLAR AGENESİS PREVALENCE AND PATTERNS IN A SAMPLE OF TURKISH CHILDREN

, 2021
Edibe Eğil
openalex   +2 more sources

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

SAT-478 A Case of Congenital Thyroid Hemi-Agenesis- Caution for Complications!

, 2020
Sabah Patel, Petra Krutilova, Janice L Gilden   +2 more
openalex   +1 more source

Nutritional approach in a growing Jack Russell terrier with gall bladder agenesis

Veterinary Record Case Reports, Volume 14, Issue 1, February 2026.
Abstract An asymptomatic male Jack Russell terrier diagnosed at the age of 18 weeks with congenital gall bladder agenesis, confirmed by computed tomography scan, after finding abnormally high values for liver enzymes in a routine blood count. Treatment with liver‐protective agents S‐adenosylmethionine and ursodeoxycholic acid was initiated. At 6 months
Tamara Seghers, Matthias Dennler, Brigitta Wichert, Annette Liesegang   +3 more
wiley   +1 more source

An impressive image of unilateral pulmonary artery agenesis associated with coronary collateralization in an adult

Anatolian Journal of Cardiology, 2020
Yakup Alsancak, Sefa Tatar, Ahmet Seyfeddin Gürbüz, Celalettin Korkmaz, Mehmet Akif Düzenli   +4 more
doaj   +1 more source

Congenital Unilateral Agenesis of the Parotid Gland: A Case Report and Review of the Literature [PDF]

, 2016
Afshin Teymoortash, Stephan Hoch
openalex   +1 more source

Investigating the Prevalence of Third Molar Agenesis in Western Tamil Nadu: A Cross-Sectional Analysis

Journal of Indian Academy of Oral Medicine and Radiology
Background: Due to changes in the dietary habits, functional load for the teeth has relatively reduced nowadays. This had increased the agenesis of third molars.
Nivethitha Venkatesan, Suman J. Lakshmi, Elangovan Somasundaram, Senthil K. Balasubramaniyam   +3 more
doaj   +1 more source