Results 71 to 80 of about 3,242 (162)

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database. [PDF]

open access: yesIntractable Rare Dis Res
Wang J   +27 more
europepmc   +1 more source

Christ Siemens Touraine syndrome: a case report [PDF]

open access: yes, 2009
Luiz Gutenberg TM Coelho   +13 more
core   +1 more source

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights. [PDF]

open access: yesBMC Oral Health
Thaweesapphithak S   +8 more
europepmc   +1 more source

A classical variant of ectodermal dysplasia: a case report. [PDF]

open access: yesPan Afr Med J
Jawade S   +4 more
europepmc   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

open access: yesJ Med Case Rep
Ahmadkhani A   +5 more
europepmc   +1 more source

Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study. [PDF]

open access: yesActa Derm Venereol
Herlin LK   +3 more
europepmc   +1 more source

Oral minoxidil treatment for hypotrichosis in Lelis syndrome. [PDF]

open access: yesJAAD Case Rep
Bhanot I   +6 more
europepmc   +1 more source

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