Results 141 to 150 of about 9,046 (221)

Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis. [PDF]

Mol Genet Metab Rep
Lusk EN, Percival KA, Weber CA, Prohofsky R, Minett MM, Snow EL.   +5 more
europepmc   +1 more source

[Cleidocranial dysostosis].

Stomatoloski glasnik Srbije, 1982
openaire   +2 more sources

A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report. [PDF]

Oxf Med Case Reports
Hameed MS, Maheen M, Sadiq SM, Farooq U, Rehman A, Ihtesham A, Khan I, Maqbool S, Iqbal J.   +8 more
europepmc   +1 more source

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders. [PDF]

Int J Mol Sci
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source

Generation, Cloning, and Expression of Full-length Human EVC Gene [PDF]

, 2011
Polvadore, Trey
core   +1 more source

Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis. [PDF]

Ann Hum Genet
Ngiwsara L, Dhachpramuk D, Sawangareetrakul P, Vongphit S, Pacharn P, Svasti J, Vatanavicharn N.   +6 more
europepmc   +1 more source

Unilateral accessory tragi in a cat. [PDF]

J Vet Diagn Invest
Brun F, Pertuis M, Cochet-Faivre N, Reyes-Gomez E.   +3 more
europepmc   +1 more source

Genetic Heterogeneity Underlying Familial Short Stature. [PDF]

Diagnostics (Basel)
Comel M, Barat-Houari M, Alkar F, Amouroux C, Prodhomme O, Ruiz N, Rondeau S, Wells CF, Pers YM, Geneviève D, Willems M.   +10 more
europepmc   +1 more source

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect. [PDF]

Clin Genet
Gregersen PA, Hammarsjö A, Graversen L, Brix N, Lindelöf H, Jensen UB, Farholt S, Rubak S, Bjerre J, Piticchio SG, Terkelsen T, Nishimura G, Hellfritzsch MB, Grigelioniene G.   +13 more
europepmc   +1 more source