Results 121 to 130 of about 19,066 (210)

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome [PDF]

, 2020
Inserm
openalex   +1 more source

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

, 2011
Javier Cañueto, M.I. Zafra-Cobo, S. Ciria, P. Unamuno, Rogelio González‐Sarmiento   +4 more
openalex   +1 more source

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

, 2015
Manisha Goyal, Gaurav Pradhan, Sunita Gupta, Seema Kapoor   +3 more
openalex   +1 more source

Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism. [PDF]

, 1981
Alan R. Rushton, Myron Genel
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Ectrodactyly Ectodermal Dysplasia Cleft Lip (EEC) Syndrome. [PDF]

Indian Dermatol Online J, 2023
Kothari R, Kishore K, Chand S.
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia. [PDF]

, 1987
Angus Clarke
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Hypohidrotic ectodermal dysplasia: A rare entity. [PDF]

J Oral Maxillofac Pathol, 2023
Srivastava H, Singh CK, Qureshi SMR, Mastud CS.   +3 more
europepmc   +1 more source

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia

, 2020
Xu Wang, Zhiyu Zhang, Shuo Yuan, Jiabao Ren, Hong Qu, Guozhong Zhang, Wenjing Chen, Shushen Zheng, Lingqiang Meng, Jiuping Bai, Qingqing Du, Dongru Yang, Wenjing Shen   +12 more
openalex   +1 more source

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

, 2021
Bradley Bowles, Alejandro Ferrer, Carla Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup, Jennifer A. Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovese, Chelsea Roadhouse, Kirsty McWalter, Ingrid M. Wentzensen, Chumei Li, Dusica Babovic‐Vuksanovic, Brendan C. Lanpher, Maria Lisa Dentici, Arunkanth Ankala, J. Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Bénédicte Gérard, Agnès Bloch‐Zupan, Richard J. Smith, Eric W. Klee   +30 more
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A Hereditary Ectodermal Dysplasia, Hitherto Not Described, Including Grouped Comedones [PDF]

, 1947
C. H. Whittle
openalex   +1 more source