Results 171 to 180 of about 8,700 (250)

Hereditary Sensory and Autonomic Neuropathy Type VIII: Congenital Insensitivity to Pain with Anhidrosis. [PDF]

Indian Dermatol Online J, 2022
Kusumesh R, Ambastha A, Singh V, Singh A.   +3 more
europepmc   +1 more source

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia [PDF]

, 2018
Margherita Marchi, Vincenzo Provitera, Maria Nolano, Marcello Romano, Simona Maccora, Ilaria D’Amato, Erika Salvi, Monique M. Gerrits, Lucio Santoro, Giuseppe Lauria   +9 more
openalex   +1 more source

Congenital Insensitivity to Pain: A Case Study of a Rare Genetic Disorder. [PDF]

Cureus
Al-Hroub NN, Al-Salahat AA, Taamreh MA, Abunejma FM, Dukmak ON.   +4 more
europepmc   +1 more source

Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team [PDF]

, 2010
Ganka Douglas, Marni E. Axelrad, Mary L. Brandt, Elizabeth Crabtree, Jennifer E. Dietrich, Shannon French, Sheila Gunn, Lefkothea Karaviti, Monica E. Lopez, Charles G. Macias, Laurence B. McCullough, Deepa Suresh, V. Reid Sutton   +12 more
core   +1 more source

Congenital Insensitivity TO Pain: A Case Report

, 2023
Hind Hamdani, Naoual Mtalai, Sara Ennaki, Ghizlane Daghouj, Loubna El Maaloum, B. Allali, A. El Kettani   +6 more
openalex   +2 more sources

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study. [PDF]

Pediatr Dermatol
Maazi M, Lam JM.
europepmc   +1 more source

Living without pain: A 10-year study of congenital insensitivity to pain with anhidrosis. [PDF]

Pediatr Res
Klaitman SS, Ling G, Kristal E, David O, Elamour S, Hershkovitz E, Ling E.   +6 more
europepmc   +1 more source

Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report. [PDF]

Front Med (Lausanne), 2022
Zhu R, Zhu Y, Xu M, Gu Z.
europepmc   +1 more source

Roots and fates of congenital insensitivity to pain and anhidrosis: a human phenotype

R. K. Rosheni, K. S. Surabhi, S. H. Fiza, D. R. Thanushree, Robin George   +4 more
openalex   +2 more sources

1B1-02 Development of controllable cooling wear for Congenital insensitivity to pain with anhidrosis

, 2006
Saki Kawakubo, Kunio SUGANUMA, Ken Sasaki, Shigeka YOSHIMOTO, Hiroshi Watanabe, Yoshiyuki Kanai, Kiyoshi Itao   +6 more
openalex   +1 more source