Results 101 to 110 of about 10,708 (219)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

H-syndrome: Proposed diagnostic criteria for a clinical challengeCapsule Summary

JAAD Reviews
H-syndrome is a disorder of histiocytes with a notable reduction in nucleoside transport activity of hENT3 protein. Cutaneous involvement is a hallmark characteristic of H-syndrome with bilateral and symmetrical hyperpigmented hypertrichotic indurated ...
Hagar Nofal, MD, Rania AlAkad, MD, Ahmad Nofal, MD   +2 more
doaj   +1 more source

Cutaneous Granular Cell Tumor with Overlying Hypertrichosis in an Adult: A Rare Case Report

Dermatopathology
Granular cell tumors are uncommon neoplasms of neural origin that may involve the skin and often present with nonspecific clinical features, making diagnosis challenging.
Yara Alhusaini, Abdulaziz Almufadhi, Naif Alzahrani, Nawaf Alqahtani, Ohoud Aljarbou   +4 more
doaj   +1 more source

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel [PDF]

, 2017
Chen, Xingyu, Cooper, Paige E., McClenaghan, Conor, Nichols, Colin G., Stary-Weinzinger, Anna   +4 more
core   +2 more sources

The skin and internal disease : the importance of looking beyond the skin [PDF]

, 2006
The skin is the largest organ in the human body. It has important 'local' roles such as protecting internal structures from potentially harmful factors in the environment but in addition is very much an integral part of the body and has a complex ...
Boffa, Michael
core  

Generalized hypertrichosis associated with the use of interleukin 17 blockers in 2 patients with psoriasis

JAAD Case Reports, 2020
Luis E. Sánchez-Dueñas, MD, Lizet K. Rojano-Fritz, MD, Juan C. García-Rodríguez, MD   +2 more
doaj   +1 more source

Hypertrichosis [PDF]

, 2020
openaire   +1 more source

Spondylothoracic dysostosis, Jarcho Levin syndrome: case report [PDF]

, 2016
Dysostosis spondylothoracic, or Jarcho Levin syndrome, is characterized by a short neck and thorax, a protruding abdomen, abnormal vertebral segmentation and fusion posterior costal resulting in thoracic restriction or respiratory failure and scoliosis ...
Burciaga Flores, Carlos Horacio, Ibarra Ramírez, Marisol, Martínez de Villarreal, Laura Elia, Medina de la Cruz, Antonia Yesenia, O Cavazos, Manuel Enrique de la, Rodríguez Balderrama, Isaías   +5 more
core  

Congenital hypertrichosis lanuginosa

Indian Journal of Dermatology, Venereology and Leprology, 2018
Iffat Hassan, Shah, Sumaya, Zeerak, Peerzada, Sajad, Safia, Bashir, Yasmeen J, Bhat, Syed, Mubashir   +5 more
openaire   +2 more sources

Hypertrichosis [PDF]

BMJ, 1950
openaire   +1 more source