Results 91 to 100 of about 316,264 (317)

Dermatology [PDF]

Postgraduate Medical Journal, 1990
openaire   +2 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Relative Fat Mass and Psoriasis Risk: Evidence from NHANES 2009–2014

Journal of Multidisciplinary Healthcare
Tianming Ma,1 Xiaoqing Xiang,2 Guijun Liu3 1The Second Affiliated Hospital of Heilongjiang University of Chinese Medicine, Harbin City, Heilongjiang Province, People’s Republic of China; 2Heilongjiang University of Chinese Medicine, Harbin City ...
Ma T, Xiang X, Liu G
doaj  

The Society for Investigative Dermatology, Inc.

, 1963

openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

A Case-Control Study Exploring the Association Between Cosmetic Use and Acne Risk: Implications for Prevention and Clinical Practice

Clinical, Cosmetic and Investigational Dermatology
Kitman Choi, Hsingmei Liu, Yingying Zhu, Zhuoyu Jiang, Sha Lu Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, Guangdong, People’s Republic of ChinaCorrespondence: Sha Lu, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 107 ...
Choi K, Liu H, Zhu Y, Jiang Z, Lu S
doaj  

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Application of Antimicrobial Peptides in Wound Dressings

Drug Design, Development and Therapy
Aoxun Zhu,1,2,* Baiqi Chen,3,* Jing Ma,4 Jiajia Wang,1,2 Rongfang Tang,1,2 Liangeng Liu,1,2 Weixin Sun,1,2 Xingzhong Zheng,1,2 Guangtao Pan1,2,5 1Yancheng Hospital of Traditional Chinese Medicine Affiliated to Nanjing University of ...
Zhu A, Chen B, Ma J, Wang J, Tang R, Liu L, Sun W, Zheng X, Pan G   +8 more
doaj  

Treatment Algorithms for Dermatologic Conditions [PDF]

Udaya Kumari Tula
openalex   +1 more source

Therapeutic Guidelines: Dermatology. Version 3 [PDF]

, 2009
Subana Amirthanandan
openalex   +1 more source