Results 121 to 130 of about 3,111 (197)

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source

A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome. [PDF]

Front Neurosci
Zheng H, Zhang L, Li F.
europepmc   +1 more source

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up [PDF]

, 2014

core   +1 more source

Marcus-Gunn Jaw-Winking Phenomenon: A Case Report on Rare Oculofacial Synkinesis. [PDF]

Int Med Case Rep J
Alharthe AFH, Alghreeb HM, ALBalawi HB, ALAli NM.   +3 more
europepmc   +1 more source

Follicular dowling-degos disease and blepharophimosis-ptosis-epicanthus inversus syndrome: A chance or significant association

Indian Journal of Dermatology, 2021
Pramila Kumari, Swastika Suvirya, Atin Singhai, Kiranpreet Malhotra, Sucheta Pathania   +4 more
doaj   +1 more source

Découverte d’un nouveau mécanisme de résistance innée contre le cytomégalovirus : L’union fait la force [PDF]

, 2006
Fodil, Nassima, Kielczewska, Agnieszka, Vidal, Silvia M.   +2 more
core   +1 more source

Blepharophimosis-epicanthus inversus-ptosis syndrome [PDF]

, 2020
openaire   +1 more source

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome. [PDF]

Brain Sci
Harutyunyan L, D'Incal CP, Jansen AC, Meuwissen M, Van Dijck A, Kooy RF.   +5 more
europepmc   +1 more source

Reprise traductionnelle en aval d’un codon stop prématuré et agrégation protéique [PDF]

, 2006
Moumné, Lara, Veitia, Reiner A.
core  

Kounis Syndrome: An Entity One Should Not Forget. [PDF]

Cureus
Paulo J, Marto D, Figueiredo F, Oliveira J, Costa M.   +4 more
europepmc   +1 more source