Results 191 to 200 of about 47,155 (269)

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations. [PDF]

Haemophilia
Bandini P, Borràs N, Altisent C, Sánchez-Raya J, Martin-Fernandez L, Garcia-Martínez I, Comes N, Ramírez L, Martorell M, Hobeich C, Vidal F, Corrales I.   +11 more
europepmc   +1 more source

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia. [PDF]

Int J Mol Sci
Kondratyeva EI, Avdeev SN, Kyian TA, Ryzhkova OP, Melyanovskaya YL, Zabnenkova VV, Bulakh MV, Merzhoeva ZM, Bukhonin AV, Trushenko NV, Lavginova BB, Zhukova DO, Kutsev SI.   +12 more
europepmc   +1 more source

Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality. [PDF]

Front Med (Lausanne)
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D.   +15 more
europepmc   +1 more source

PM2·5: an important cause for chronic obstructive pulmonary disease?

Lancet Planetary Health, 2018
C. Wen, Wayne Gao
semanticscholar   +1 more source

The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients. [PDF]

Cancer Manag Res
Assaf N, Sharab SJ, Monsef C, El Saghir NS.   +3 more
europepmc   +1 more source

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort. [PDF]

Mol Autism
Viora-Dupont E, Delanne J, Garde A, Nambot S, Colin E, Bournez M, Fauconnier-Fatus C, Racine C, Simao De Souza C, Bernard C, Maurer A, Espitalier A, Binquet C, Bouctot M, Humbert ML, Briffaut AS, Darmency V, Plumet P, Cotinaud-Ricou A, Relin N, Callier P, Mosca-Boidron AL, Marle N, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Vitobello A, Philippe C, Duffourd Y, Bruel AL, Thauvin-Robinet C, Faivre L.   +31 more
europepmc   +1 more source

Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India. [PDF]

Int J Mol Sci
Setia P, Bargir UA, Desai M, Dalvi A, Shinde S, Jodhawat N, Gaikwad P, Bhattad S, Shainmukhaih C, Gupta M, Dhawale A, Kambli P, Yadav RM, Kalra M, Gangadharan H, Sivasankaran M, Bafna V, Kumar P, Sarvanan P, Manglani M, Sharma R, Tamhankar P, Madkaikar M.   +22 more
europepmc   +1 more source

PM2·5 concentration and elderly tuberculosis: analysis of spatial and temporal associations

The Lancet, 2017
N. Wong, C. Leung, Ying Li, C. Poon, Shiqi Yao, E. Wong, Changqing Lin, A. Lau, Shui-Shan Lee   +8 more
semanticscholar   +1 more source

Identification of pathogenic variants for the development of ultra-long axial length in myopic children. [PDF]

PLoS One
Zhu Y, Li X, Chen Y, Xie H, Liu Y, Xu X, Wang J.   +6 more
europepmc   +1 more source

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia. [PDF]

J Clin Immunol
Blom M, Duintjer AJ, Pico-Knijnenburg I, Imholz S, Balkassmi S, van Duyvenvoorde HA, van der Burg M.   +6 more
europepmc   +1 more source