Results 201 to 210 of about 18,314 (251)

Intubation in a Case of Ectodermal Dysplasia During Surgery: A Case Report. [PDF]

Cureus
Geetha S, Verma N, Singam A.
europepmc   +1 more source

A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia.

, 2003
Agnieszka Kobielak, Krzysztof Kobielak, Barbara Biedziak, Wiesław H. Trzeciak   +3 more
openalex   +2 more sources

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia [PDF]

, 2009
Christie‐Ann McCarl, Capucine Pïcard, Sara Khalil, Takumi Kawasaki, Jens Röther, Alexander Papolos, Jeffery L. Kutok, Claire Hivroz, F Ledeist, Katrin Plogmann, Stephan Ehl, Gundula Notheis, Michael H. Albert, Bernd H. Belohradsky, Janbernd Kirschner, Anjana Rao, Alain Fischer, Stefan Feske   +17 more
openalex   +1 more source

Three-Dimensional Modeling and Quantitative Assessment of Mandibular Volume in Ectodermal Dysplasia: A Case Series. [PDF]

Medicina (Kaunas)
Akleyin E, Yavuz Y, Yardımeden A.
europepmc   +1 more source

Congenital Ectodermal Dysplasia [PDF]

British Journal of Ophthalmology, 1955
openaire   +3 more sources

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

, 2004
Ryuta Nishikomori, Hiroshi Akutagawa, Kyoko Maruyama, Mami Nakata‐Hizume, Katsuyuki Ohmori, Kazunori Mizuno, Akihiro Yachie, Takahiro Yasumi, Takashi Kusunoki, Toshio Heike, Tatsutoshi Nakahata   +10 more
openalex   +1 more source

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. [PDF]

Hum Genet
Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Martínez-Monseny AF, Palau F, Liu P, Adams D, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC.   +22 more
europepmc   +1 more source

Homozygous <i>HOXC13</i> Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability. [PDF]

Hum Mutat
Clowes V, Ma X, Maude H, Dennis C, Gao Q, Quinn G, O'Toole EA, Batta K, Cebola I, Cui W.   +9 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia. [PDF]

Journal of Medical Genetics, 1987
openaire   +3 more sources

Prenatal sonographic evidence of hypohidrotic ectodermal dysplasia and postnatal genetic testing of a family line of child. [PDF]

Quant Imaging Med Surg
Lin D, Li H, Tian L, Liu L, Zhang J, Wang Y, Zhang J, Su L, Zeng Q, Wu Q.   +9 more
europepmc   +1 more source